A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2230663



Internal ID17800745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:20252071..20254457hg38UCSC Ensembl
Innerchr20:20232715..20235101hg19UCSC Ensembl
Innerchr20:20180715..20183101hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382387
hg192387
hg182387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964380
Supporting Variants
SamplesHGDP00778
Known GenesC20orf26
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)nssv2230663
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer