A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584910



Internal ID16372319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240923589..240924916hg38UCSC Ensembl
Innerchr2:241863006..241864333hg19UCSC Ensembl
Innerchr2:241511679..241513006hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381328
hg191328
hg181328
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7380n54
Supporting Variantsnssv934486, nssv934474, nssv934475, nssv934468, nssv934489, nssv934491, nssv934480, nssv934483, nssv934465, nssv934484, nssv934467, nssv934478, nssv934463, nssv934481, nssv934471, nssv934482, nssv934492, nssv934479, nssv934477, nssv934490, nssv934485, nssv934476, nssv934464, nssv934470, nssv934466, nssv934469, nssv934488, nssv934487, nssv934472, nssv934473
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584910
Frequency
Sample Size17421
Observed Gain13
Observed Loss17
Observed Complex0
Frequencyn/a


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