A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2229360



Internal ID17789114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:7830978..7831847hg38UCSC Ensembl
Innerchr20:7811625..7812494hg19UCSC Ensembl
Innerchr20:7759625..7760494hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38870
hg19870
hg18870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965852
Supporting Variants
SamplesHGDP00665
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)nssv2229360
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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