A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2239111



Internal ID17803631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51087650..51089392hg38UCSC Ensembl
Innerchr20:49704187..49705929hg19UCSC Ensembl
Innerchr20:49137594..49139336hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381743
hg191743
hg181743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962591
Supporting Variants
SamplesHGDP00778
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)nssv2239111
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