A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968991



Internal ID18257533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138554755..138556387hg38UCSC Ensembl
Innerchr5:137890444..137892076hg19UCSC Ensembl
Innerchr5:137918343..137919975hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381633
hg191633
hg181633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2378604, nssv2378609, nssv2378606, nssv2378613, nssv2378611, nssv2378605, nssv2378612, nssv2378607, nssv2378608, nssv2378610
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHSPA9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968991
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