A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2237457



Internal ID17849906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45636643..45648792hg38UCSC Ensembl
Innerchr20:44265282..44277431hg19UCSC Ensembl
Innerchr20:43698696..43710845hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812150
hg1912150
hg1812150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965877
Supporting Variants
SamplesHGDP01029
Known GenesWFDC11
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)nssv2237457
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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