A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587399



Internal ID18538994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21108282..21486464hg38UCSC Ensembl
Innerchr22:21462571..21840753hg19UCSC Ensembl
Innerchr22:19792571..20170753hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38378183
hg19378183
hg18378183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061697
Supporting Variants
Samples
Known GenesBCRP2, FAM230B, HIC2, PI4KAP2, POM121L8P, 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)nssv3587399
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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