A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235088



Internal ID17439654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36044554..36050516hg38UCSC Ensembl
Innerchr20:34632476..34638438hg19UCSC Ensembl
Innerchr20:34095890..34101852hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg385963
hg195963
hg185963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964394
Supporting Variants
SamplesHGDP00665
Known GenesLINC00657
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)nssv2235088
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