A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964407



Internal ID18252959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50081454..50084729hg38UCSC Ensembl
Innerchr20:48697991..48701266hg19UCSC Ensembl
Innerchr20:48131398..48134673hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383276
hg193276
hg183276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2238926, nssv2238930, nssv2238931, nssv2238925, nssv2238924, nssv2238928, nssv2238927, nssv2238929, nssv2238933, nssv2238932
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964407
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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