A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584699



Internal ID16025422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233273594..233346901hg38UCSC Ensembl
Innerchr2:234182240..234255547hg19UCSC Ensembl
Innerchr2:233846979..233920286hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3873308
hg1973308
hg1873308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933636
Samples
Known GenesATG16L1, SAG, SCARNA5, SCARNA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584699
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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