A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968145



Internal ID18603373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18741652..18752669hg38UCSC Ensembl
Innerchr5:18741761..18752778hg19UCSC Ensembl
Innerchr5:18777518..18788535hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3811018
hg1911018
hg1811018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2346728, nssv2346731, nssv2346726, nssv2346730, nssv2346725, nssv2346734, nssv2346733, nssv2346727, nssv2346729, nssv2346732
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)nsv968145
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer