A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980256



Internal ID18615456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127811793..127817374hg38UCSC Ensembl
Innerchr4:128732948..128738529hg19UCSC Ensembl
Innerchr4:128952398..128957979hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg385582
hg195582
hg185582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2335080, nssv2335078, nssv2335079, nssv2335075, nssv2335072, nssv2335071, nssv2335074, nssv2335077, nssv2335073, nssv2335076
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPA4L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980256
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