A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980694



Internal ID18615894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:85463210..85466614hg38UCSC Ensembl
Innerchr5:84759028..84762432hg19UCSC Ensembl
Innerchr5:84794784..84798188hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383405
hg193405
hg183405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367723, nssv2367725, nssv2367718, nssv2367717, nssv2367724, nssv2367716, nssv2367720, nssv2367719, nssv2367721, nssv2367722
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)nsv980694
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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