A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235819



Internal ID17474360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34280179..34281179hg38UCSC Ensembl
Innerchr20:32867985..32868985hg19UCSC Ensembl
Innerchr20:32331646..32332646hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965872
Supporting Variants
SamplesHGDP00927
Known GenesAHCY
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)nssv2235819
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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