A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731787



Internal ID18683382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16805822hg38UCSC Ensembl
Innerchr22:16864886..17286712hg19UCSC Ensembl
Innerchr22:15244886..15666712hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38421599
hg19421827
hg18421827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056762
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3731787
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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