A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731969



Internal ID18683564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22168470..22340029hg38UCSC Ensembl
Innerchr22:22522863..22694382hg19UCSC Ensembl
Innerchr22:20852863..21024382hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38171560
hg19171520
hg18171520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058897
Supporting Variants
Samples
Known GenesBMS1P20, VPREB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3731969
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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