A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056762



Internal ID18799293
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 StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589284, nssv3731787, nssv3589285, nssv3731788
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)nsv1056762
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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