A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969012



Internal ID18604240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170139650..170142826hg38UCSC Ensembl
Innerchr5:169566654..169569830hg19UCSC Ensembl
Innerchr5:169499232..169502408hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383177
hg193177
hg183177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385113, nssv2385107, nssv2385112, nssv2385110, nssv2385105, nssv2385106, nssv2385108, nssv2385111, nssv2385109, nssv2385114
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)nsv969012
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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