A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv920052



Internal ID15867322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130236250..130440530hg38UCSC Ensembl
Innerchr2:130993823..131198103hg19UCSC Ensembl
Innerchr2:130710293..130914573hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204281
hg19204281
hg18204281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583130
Supporting Variants
Samples
Known GenesCCDC115, CYP4F62P, FAR2P2, IMP4, PTPN18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv920052
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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