A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236941



Internal ID17782496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48484214..48520018hg38UCSC Ensembl
Innerchr20:47112460..47136556hg19UCSC Ensembl
Innerchr20:46545867..46569963hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3835805
hg1924097
hg1824097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964405
Supporting Variants
SamplesHGDP00665
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)nssv2236941
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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