A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2230737



Internal ID17862386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18782122..18783222hg38UCSC Ensembl
Innerchr20:18762766..18763866hg19UCSC Ensembl
Innerchr20:18710766..18711866hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381101
hg191101
hg181101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964379
Supporting Variants
SamplesHGDP01284
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)nssv2230737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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