A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056667



Internal ID18799198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16981761hg38UCSC Ensembl
Innerchr22:16864886..17462651hg19UCSC Ensembl
Innerchr22:15244886..15842651hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38597538
hg19597766
hg18597766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4460n100
Supporting Variantsnssv3731793
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, GAB4, HSFY1P1, 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)nsv1056667
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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