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Omics · study · 2026

Processed SNP array–based SMN1 exon 7 and exon 8 copy number estimates from a large clinical carrier screening cohort

Listed in NCBI GEO

This dataset contains de identified, processed copy number estimates for SMN1 exon 7 and exon 8 derived from the Thermo Fisher CarrierScan 1S SNP array platform.

Description

Data were generated as part of a large retrospective clinical carrier screening study evaluating SMN1 deletion patterns and characterizing the relative frequencies of hybrid versus contiguous deletion alleles. Only processed CNV values are deposited; raw array intensities and probe level annotation files are proprietary to Thermo Fisher Scientific and cannot be publicly distributed.

The processed values deposited here represent all data necessary to reproduce the analyses presented in the associated manuscript.

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From keywords
Life Sciences
Inferred from text
Genetics 73%
Provenance · 1 source records, 8 field assertions
SourceKeyLast seenRaw
NCBI GEOGSE32615113 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[field].anzsrc:group:3105enrichment · NCBI GEOtaxonomy-embedding@1.1.0title+keywords+description (73%)
concepts[field].local:field:life-sciencesmapping · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[method].geo_series_type:genome-variation-profiling-by-snp-arraysource · NCBI GEOconnector:ncbi_geo@1.0.0/gdstype
concepts[organism].NCBITaxon:9606source · NCBI GEOconnector:ncbi_geo@1.0.0/taxon
descriptionsource · NCBI GEOconnector:ncbi_geo@1.0.0/summary
publication_datesource · NCBI GEOconnector:ncbi_geo@1.0.0
titlesource · NCBI GEOconnector:ncbi_geo@1.0.0/title