A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980642



Internal ID18615842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50443831..50459141hg38UCSC Ensembl
Innerchr5:49739665..49754975hg19UCSC Ensembl
Innerchr5:49775422..49790732hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3815311
hg1915311
hg1815311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2356685, nssv2356680, nssv2356687, nssv2356688, nssv2356683, nssv2356679, nssv2356684, nssv2356681, nssv2356682, nssv2356686
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)nsv980642
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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