A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968233



Internal ID18603461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111845819..111847917hg38UCSC Ensembl
Innerchr5:111181516..111183614hg19UCSC Ensembl
Innerchr5:111209415..111211513hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2372820, nssv2372821, nssv2372822, nssv2372826, nssv2372823, nssv2372827, nssv2372819, nssv2372825, nssv2372818, nssv2372824
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNREP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968233
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