A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583175



Internal ID16370584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136905285..137014437hg38UCSC Ensembl
Innerchr2:137662855..137772007hg19UCSC Ensembl
Innerchr2:137379325..137488477hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38109153
hg19109153
hg18109153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920100
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583175
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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