A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583180



Internal ID16023903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137597152..138007481hg38UCSC Ensembl
Innerchr2:138354722..138765051hg19UCSC Ensembl
Innerchr2:138071192..138481521hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38410330
hg19410330
hg18410330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920104
Samples
Known GenesHNMT, THSD7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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