A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2233263



Internal ID17831807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25895385..26171864hg38UCSC Ensembl
Innerchr20:25876021..26152500hg19UCSC Ensembl
Innerchr20:25824021..26100500hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38276480
hg19276480
hg18276480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962569
Supporting Variants
SamplesHGDP00998
Known GenesFAM182A, LOC100134868, NCOR1P1
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)nssv2233263
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