A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2241613



Internal ID17801449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64280475..64292795hg38UCSC Ensembl
Innerchr20:62911828..62924148hg19UCSC Ensembl
Innerchr20:62382272..62394592hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3812321
hg1912321
hg1812321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965897
Supporting Variants
SamplesHGDP00778
Known GenesLINC00266-1
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)nssv2241613
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