A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964994



Internal ID18600229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181339968..181351190hg38UCSC Ensembl
Innerchr5:180766969..180778191hg19UCSC Ensembl
Innerchr5:180699575..180710797hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811223
hg1911223
hg1811223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv68n82
Supporting Variantsnssv2391631, nssv2391632, nssv2391638, nssv2391636, nssv2391635, nssv2391639, nssv2391637, nssv2391630, nssv2391633, nssv2391634
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)nsv964994
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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