A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945858



Internal ID18592708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28978176..28983195hg38UCSC Ensembl
Innerchr1:29304688..29309707hg19UCSC Ensembl
Innerchr1:29177275..29182294hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg385020
hg195020
hg185020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1756808, nssv1756801, nssv1756809, nssv1756804, nssv1756805, nssv1756807, nssv1756800, nssv1756806, nssv1756803, nssv1756802
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEPB41
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945858
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