A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698015



Internal ID15434667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28635493..28654140hg38UCSC Ensembl
Innerchr2:28858359..28877006hg19UCSC Ensembl
Innerchr2:28711863..28730510hg18UCSC Ensembl
Innerchr2:28770010..28788657hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3818648
hg1918648
hg1818648
hg1718648
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521405
Supporting Variants
Samples
Known GenesPLB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698015
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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