A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2232736



Internal ID17772283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:22732189..22733883hg38UCSC Ensembl
Innerchr20:22712827..22714521hg19UCSC Ensembl
Innerchr20:22660827..22662521hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381695
hg191695
hg181695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962563
Supporting Variants
SamplesHGDP00542
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)nssv2232736
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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