A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964902



Internal ID18600138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80282232..80289545hg38UCSC Ensembl
Innerchr5:79578051..79585364hg19UCSC Ensembl
Innerchr5:79613807..79621120hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387314
hg197314
hg187314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366272, nssv2366276, nssv2366275, nssv2366268, nssv2366277, nssv2366273, nssv2366270, nssv2366269, nssv2366271, nssv2366274
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964902
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