A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2238931



Internal ID17506424
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 StatusS
Merged Variantsnsv964407
Supporting Variants
SamplesHGDP01029
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2238931
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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