A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1660216



Internal ID15481877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41510925..41526616hg38UCSC Ensembl
Innerchr17:39667177..39682868hg19UCSC Ensembl
Innerchr17:36920703..36936394hg18UCSC Ensembl
Innerchr17:36920703..36936394hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3815692
hg1915692
hg1815692
hg1715692
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442419
Supporting Variants
SamplesNA18862
Known GenesKRT15, KRT19, MIR6510
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)nssv1660216
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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