A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980690



Internal ID18269204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80296139..80318562hg38UCSC Ensembl
Innerchr5:79591958..79614381hg19UCSC Ensembl
Innerchr5:79627714..79650137hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3822424
hg1922424
hg1822424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367065, nssv2367066, nssv2367059, nssv2367060, nssv2367061, nssv2367062, nssv2367064, nssv2367057, nssv2367058, nssv2367063
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC644936
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980690
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