A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590659



Internal ID16378068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75379524..75519068hg38UCSC Ensembl
Innerchr3:75428675..75568219hg19UCSC Ensembl
Innerchr3:75511365..75650909hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38139545
hg19139545
hg18139545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8380n54
Supporting Variantsnssv1152263, nssv1152261, nssv965665, nssv1152259, nssv1152264, nssv1152260, nssv1152262, nssv965666
Samples1780854573_A, 1798860443_A, HGDP01362, NINDS_36, 1798860565_A, 1780854483_A
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590659
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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