A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv914553



Internal ID15861823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100292046..100591177hg38UCSC Ensembl
Innerchr2:100908508..101207639hg19UCSC Ensembl
Innerchr2:100274940..100574071hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38299132
hg19299132
hg18299132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582531
Supporting Variants
Samples
Known GenesCHST10, LONRF2, NMS, PDCL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv914553
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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