A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965894



Internal ID18601124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59033895..59035032hg38UCSC Ensembl
Innerchr20:57608950..57610087hg19UCSC Ensembl
Innerchr20:57042345..57043482hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381138
hg191138
hg181138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2242418, nssv2242420, nssv2242426, nssv2242417, nssv2242419, nssv2242424, nssv2242421, nssv2242423, nssv2242422, nssv2242425
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLMO2, SLMO2-ATP5E
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965894
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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