A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968183



Internal ID18603411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64224392..64227617hg38UCSC Ensembl
Innerchr5:63520219..63523444hg19UCSC Ensembl
Innerchr5:63555975..63559200hg18UCSC Ensembl
Cytoband5q12.2
Allele length
AssemblyAllele length
hg383226
hg193226
hg183226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2358726, nssv2358722, nssv2358728, nssv2358730, nssv2358731, nssv2358727, nssv2358729, nssv2358723, nssv2358724, nssv2358725
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRNF180
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968183
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