A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608989



Internal ID16396398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149854904..149888290hg38UCSC Ensembl
Innerchr7:149551993..149585379hg19UCSC Ensembl
Innerchr7:149182926..149216312hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3833387
hg1933387
hg1833387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11717n54
Supporting Variantsnssv1155698, nssv1155699
SamplesHGDP01102, HGDP00973
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608989
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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