A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999454



Internal ID19158991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41568277..41702196hg38UCSC Ensembl
Innerchr2:41795417..41929336hg19UCSC Ensembl
Innerchr2:41648921..41782840hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38133920
hg19133920
hg18133920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3795n100
Supporting Variantsnssv3581563
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999454
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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