A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700499



Internal ID15090465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201696848..201817506hg38UCSC Ensembl
Innerchr2:202561571..202682229hg19UCSC Ensembl
Innerchr2:202269816..202390474hg18UCSC Ensembl
Innerchr2:202387077..202507735hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38120659
hg19120659
hg18120659
hg17120659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524548
Supporting Variants
Samples
Known GenesALS2, CDK15, MPP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700499
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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