A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980693



Internal ID18615893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82967302..82983994hg38UCSC Ensembl
Innerchr5:82263121..82279813hg19UCSC Ensembl
Innerchr5:82298877..82315569hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3816693
hg1916693
hg1816693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368377, nssv2368376, nssv2368379, nssv2368373, nssv2368374, nssv2368372, nssv2368380, nssv2368378, nssv2368381, nssv2368375
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)nsv980693
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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