A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969028



Internal ID18257570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179690223..179696616hg38UCSC Ensembl
Innerchr5:179117224..179123617hg19UCSC Ensembl
Innerchr5:179049830..179056223hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386394
hg196394
hg186394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2390219, nssv2390213, nssv2390214, nssv2390218, nssv2390212, nssv2390216, nssv2390211, nssv2390210, nssv2390215, nssv2390217
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)nsv969028
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