A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965013



Internal ID18600248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50679986..50685149hg38UCSC Ensembl
Innerchr5:49975820..49980983hg19UCSC Ensembl
Innerchr5:50011577..50016740hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg385164
hg195164
hg185164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2697207, nssv2697202, nssv2697205, nssv2697209, nssv2697208, nssv2697206, nssv2697201, nssv2697203, nssv2697200, nssv2697204
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPARP8
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965013
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