A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519950



Internal ID15447243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76985977..77029165hg38UCSC Ensembl
Innerchr2:77213103..77256291hg19UCSC Ensembl
Innerchr2:77066611..77109799hg18UCSC Ensembl
Innerchr2:77124758..77167946hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3843189
hg1943189
hg1843189
hg1743189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697142
Samples
Known GenesLRRTM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519950
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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