A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964812



Internal ID18253362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:221625..227439hg38UCSC Ensembl
Innerchr5:221740..227554hg19UCSC Ensembl
Innerchr5:274740..280554hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385815
hg195815
hg185815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2344113, nssv2344112, nssv2344115, nssv2344116, nssv2343051, nssv2344111, nssv2344108, nssv2344110, nssv2344109, nssv2344114
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSDHA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964812
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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