A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980754



Internal ID18615954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174513366..174514525hg38UCSC Ensembl
Innerchr5:173940369..173941528hg19UCSC Ensembl
Innerchr5:173872975..173874134hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381160
hg191160
hg181160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386286, nssv2386289, nssv2386290, nssv2386287, nssv2386285, nssv2386284, nssv2386291, nssv2386282, nssv2386288, nssv2386283
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)nsv980754
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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