A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968250



Internal ID18603478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139494710..139497791hg38UCSC Ensembl
Innerchr5:138874295..138877376hg19UCSC Ensembl
Innerchr5:138854479..138857560hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383082
hg193082
hg183082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376794, nssv2376800, nssv2376795, nssv2376793, nssv2376796, nssv2376798, nssv2376801, nssv2376797, nssv2376802, nssv2376799
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)nsv968250
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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