A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv613693



Internal ID16054416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17147193..17710409hg38UCSC Ensembl
Innerchr9:17147191..17710407hg19UCSC Ensembl
Innerchr9:17137191..17700407hg18UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38563217
hg19563217
hg18563217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156257, nssv1156256
SamplesHGDP00617, HGDP00635
Known GenesCNTLN, SH3GL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv613693
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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