A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2088797



Internal ID17502312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28720734..28723723hg38UCSC Ensembl
Innerchr17:27047752..27050741hg19UCSC Ensembl
Innerchr17:24071879..24074868hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382990
hg192990
hg182990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960457
Supporting Variants
SamplesHGDP01029
Known GenesRPL23A, SNORD42A, SNORD4A, SNORD4B
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)nssv2088797
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