A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968920



Internal ID18604148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69054408..69075590hg38UCSC Ensembl
Innerchr5:68350235..68371417hg19UCSC Ensembl
Innerchr5:68385991..68407173hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3821183
hg1921183
hg1821183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2359448, nssv2359447, nssv2359451, nssv2359445, nssv2359444, nssv2359449, nssv2359446, nssv2359450, nssv2359442, nssv2359443
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)nsv968920
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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