A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2240675



Internal ID17749656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59358494..59359351hg38UCSC Ensembl
Innerchr20:57933549..57934406hg19UCSC Ensembl
Innerchr20:57366944..57367801hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965895
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2240675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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