A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060653



Internal ID18803184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17606577..17706530hg38UCSC Ensembl
Innerchr22:18089343..18189296hg19UCSC Ensembl
Innerchr22:16469343..16569296hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3899954
hg1999954
hg1899954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4465n100
Supporting Variantsnssv3589340
Samples
Known GenesATP6V1E1, BCL2L13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060653
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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