A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518954



Internal ID15446247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13006520..13062091hg38UCSC Ensembl
Innerchr2:13146645..13202216hg19UCSC Ensembl
Innerchr2:13064096..13119667hg18UCSC Ensembl
Innerchr2:13097243..13152814hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3855572
hg1955572
hg1855572
hg1755572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696422
Samples
Known GenesLOC100506474
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518954
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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