A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010438



Internal ID18752969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55146426..55223008hg38UCSC Ensembl
Innerchr2:55373562..55450144hg19UCSC Ensembl
Innerchr2:55227066..55303648hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3876583
hg1976583
hg1876583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576656, nssv3576655
Samples
Known GenesCLHC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010438
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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