A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2234631



Internal ID17438520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34012851..34015508hg38UCSC Ensembl
Innerchr20:32600657..32603314hg19UCSC Ensembl
Innerchr20:32064318..32066975hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382658
hg192658
hg182658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979429
Supporting Variants
SamplesHGDP00665
Known GenesRALY
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)nssv2234631
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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