A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239323



Internal ID17540382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51782238..51784662hg38UCSC Ensembl
Innerchr20:50398777..50401201hg19UCSC Ensembl
Innerchr20:49832184..49834608hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382425
hg192425
hg182425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964409
Supporting Variants
SamplesHGDP01307
Known GenesSALL4
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)nssv2239323
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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