A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017147



Internal ID19106364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149862584..150051877hg38UCSC Ensembl
Innerchr7:149559673..149748966hg19UCSC Ensembl
Innerchr7:149190606..149379899hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38189294
hg19189294
hg18189294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6752n100
Supporting Variantsnssv3674244
Samples
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017147
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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