A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588809



Internal ID18540404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21461565..21563022hg38UCSC Ensembl
Innerchr22:21815854..21917311hg19UCSC Ensembl
Innerchr22:20145854..20247311hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38101458
hg19101458
hg18101458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060702
Supporting Variants
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)nssv3588809
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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