A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964853



Internal ID18600089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54857156..54859007hg38UCSC Ensembl
Innerchr5:54152984..54154835hg19UCSC Ensembl
Innerchr5:54188741..54190592hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381852
hg191852
hg181852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2356227, nssv2356228, nssv2356223, nssv2356221, nssv2356226, nssv2356225, nssv2356222, nssv2356219, nssv2356224, nssv2356220
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)nsv964853
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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