A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132658



Internal ID17424037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11799012..11804767hg38UCSC Ensembl
Innerchr19:11909827..11915582hg19UCSC Ensembl
Innerchr19:11770827..11776582hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385756
hg195756
hg185756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960790
Supporting Variants
SamplesHGDP00542
Known GenesZNF491
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)nssv2132658
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