A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964893



Internal ID18600129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:72418401..72424498hg38UCSC Ensembl
Innerchr5:71714228..71720325hg19UCSC Ensembl
Innerchr5:71749984..71756081hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386098
hg196098
hg186098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2364740, nssv2364743, nssv2364741, nssv2364744, nssv2364745, nssv2364739, nssv2364748, nssv2364742, nssv2364746, nssv2364747
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)nsv964893
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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