A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583133



Internal ID16370542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130281566..130390535hg38UCSC Ensembl
Innerchr2:131039139..131148108hg19UCSC Ensembl
Innerchr2:130755609..130864578hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38108970
hg19108970
hg18108970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151296
SamplesHGDP00760
Known GenesCCDC115, IMP4, PTPN18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583133
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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