A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521405



Internal ID15448698
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698015
Samples
Known GenesPLB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521405
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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