A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980750



Internal ID18615950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166027852..166029256hg38UCSC Ensembl
Innerchr5:165454857..165456261hg19UCSC Ensembl
Innerchr5:165387435..165388839hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2384638, nssv2384640, nssv2384641, nssv2384645, nssv2384646, nssv2384637, nssv2384642, nssv2384643, nssv2384639, nssv2384644
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)nsv980750
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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