A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv920054



Internal ID15867324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130255764..130390535hg38UCSC Ensembl
Innerchr2:131013337..131148108hg19UCSC Ensembl
Innerchr2:130729807..130864578hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38134772
hg19134772
hg18134772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583132
Supporting Variants
Samples
Known GenesCCDC115, IMP4, PTPN18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv920054
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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