A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028178



Internal ID19117396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149855445..150029717hg38UCSC Ensembl
Innerchr7:149552534..149726806hg19UCSC Ensembl
Innerchr7:149183467..149357739hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38174273
hg19174273
hg18174273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6752n100
Supporting Variantsnssv3674241
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)nsv1028178
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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