A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969009



Internal ID18257551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159950327..159951327hg38UCSC Ensembl
Innerchr5:159377334..159378334hg19UCSC Ensembl
Innerchr5:159309912..159310912hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385449, nssv2385452, nssv2385453, nssv2385448, nssv2385445, nssv2385451, nssv2385446, nssv2385454, nssv2385450, nssv2385447
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesADRA1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969009
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