A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231065



Internal ID17818222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23889671..23891845hg38UCSC Ensembl
Innerchr20:23870308..23872482hg19UCSC Ensembl
Innerchr20:23818308..23820482hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg382175
hg192175
hg182175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979419
Supporting Variants
SamplesHGDP00927
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)nssv2231065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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