A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060781



Internal ID18803312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21461565..21575360hg38UCSC Ensembl
Innerchr22:21815854..21929649hg19UCSC Ensembl
Innerchr22:20145854..20259649hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38113796
hg19113796
hg18113796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4491n100
Supporting Variantsnssv3588811
Samples
Known GenesPI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060781
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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