A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584896



Internal ID16372305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240923534..240924647hg38UCSC Ensembl
Innerchr2:241862951..241864064hg19UCSC Ensembl
Innerchr2:241511624..241512737hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381114
hg191114
hg181114
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7380n54
Supporting Variantsnssv934115, nssv934116, nssv934112, nssv934114, nssv934113, nssv934111
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584896
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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