A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588679



Internal ID18886960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21486149hg38UCSC Ensembl
Innerchr22:21721591..21840438hg19UCSC Ensembl
Innerchr22:20051591..20170438hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38118848
hg19118848
hg18118848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061282
Supporting Variants
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588679
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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