A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980724



Internal ID18615924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130140060..130141740hg38UCSC Ensembl
Innerchr5:129475753..129477433hg19UCSC Ensembl
Innerchr5:129503652..129505332hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375452, nssv2375449, nssv2375453, nssv2375447, nssv2375446, nssv2375448, nssv2375450, nssv2375445, nssv2375444, nssv2375451
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCHSY3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980724
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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