A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059876



Internal ID18802407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16819430hg38UCSC Ensembl
Innerchr22:16864886..17300320hg19UCSC Ensembl
Innerchr22:15244886..15680320hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38435207
hg19435435
hg18435435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589303, nssv3589302, nssv3589301
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)nsv1059876
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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