A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239207



Internal ID17754202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51129593..51132702hg38UCSC Ensembl
Innerchr20:49746130..49749239hg19UCSC Ensembl
Innerchr20:49179537..49182646hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383110
hg193110
hg183110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979440
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)nssv2239207
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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