A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2238176



Internal ID17516508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45815184..45815989hg38UCSC Ensembl
Innerchr20:44443823..44444628hg19UCSC Ensembl
Innerchr20:43877230..43878035hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965879
Supporting Variants
SamplesHGDP01284
Known GenesUBE2C
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)nssv2238176
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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