A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984340



Internal ID18272841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58707398..58709411hg38UCSC Ensembl
Innerchr16:58741302..58743315hg19UCSC Ensembl
Innerchr16:57298803..57300816hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg382014
hg192014
hg182014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2064125, nssv2064124, nssv2064131, nssv2064126, nssv2064123, nssv2064128, nssv2064129, nssv2064127, nssv2064130, nssv2064132
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGOT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984340
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