A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968260



Internal ID18603488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145228090..145230220hg38UCSC Ensembl
Innerchr5:144607653..144609783hg19UCSC Ensembl
Innerchr5:144587846..144589976hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382131
hg192131
hg182131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2383280, nssv2383278, nssv2383276, nssv2383275, nssv2383282, nssv2383279, nssv2383281, nssv2383283, nssv2383277, nssv2383274
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968260
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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