A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235618



Internal ID17820470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34119803..34150954hg38UCSC Ensembl
Innerchr20:32707609..32738760hg19UCSC Ensembl
Innerchr20:32171270..32202421hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3831152
hg1931152
hg1831152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979430
Supporting Variants
SamplesHGDP00927
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)nssv2235618
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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