A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236303



Internal ID17425777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36615448..36624249hg38UCSC Ensembl
Innerchr20:35243851..35252652hg19UCSC Ensembl
Innerchr20:34677265..34686066hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962575
Supporting Variants
SamplesHGDP00542
Known GenesSLA2
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)nssv2236303
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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