A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1658963



Internal ID15494551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5623499..5675164hg38UCSC Ensembl
Innerchr10:5665462..5717127hg19UCSC Ensembl
Innerchr10:5705468..5757133hg18UCSC Ensembl
Innerchr10:5705468..5757133hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3851666
hg1951666
hg1851666
hg1751666
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442170
Supporting Variants
SamplesNA19143
Known GenesASB13
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)nssv1658963
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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