A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022103



Internal ID18764637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149855445..149984472hg38UCSC Ensembl
Innerchr7:149552534..149681561hg19UCSC Ensembl
Innerchr7:149183467..149312494hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38129028
hg19129028
hg18129028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6751n100
Supporting Variantsnssv3674240
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)nsv1022103
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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