A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981139



Internal ID18269652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43534507..43544104hg38UCSC Ensembl
Innerchr6:43502244..43511841hg19UCSC Ensembl
Innerchr6:43610222..43619819hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389598
hg199598
hg189598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2407394, nssv2407396, nssv2407391, nssv2407398, nssv2407399, nssv2407397, nssv2407395, nssv2407392, nssv2407393, nssv2407400
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesXPO5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981139
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