A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2230253



Internal ID17799823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:13392819..13395113hg38UCSC Ensembl
Innerchr20:13373466..13375760hg19UCSC Ensembl
Innerchr20:13321466..13323760hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382295
hg192295
hg182295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962557
Supporting Variants
SamplesHGDP00778
Known GenesTASP1
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)nssv2230253
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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