A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658870



Internal ID15138032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69483652..69505204hg38UCSC Ensembl
Innerchr9:72098568..72120120hg19UCSC Ensembl
Innerchr9:71288388..71309940hg18UCSC Ensembl
Innerchr9:69328122..69349674hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3821553
hg1921553
hg1821553
hg1721553
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442151
Supporting Variants
SamplesNA18952
Known GenesAPBA1
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1658870
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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