A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2234355



Internal ID17730380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36964606..36991329hg38UCSC Ensembl
Innerchr20:35593009..35619732hg19UCSC Ensembl
Innerchr20:35026423..35053146hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3826724
hg1926724
hg1826724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962577
Supporting Variants
SamplesHGDP00456
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)nssv2234355
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