A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132751



Internal ID17457409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11814567..11978299hg38UCSC Ensembl
Innerchr19:11925382..12089114hg19UCSC Ensembl
Innerchr19:11786382..11950114hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38163733
hg19163733
hg18163733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960791
Supporting Variants
SamplesHGDP00778
Known GenesZNF439, ZNF440, ZNF69, ZNF700, ZNF763
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)nssv2132751
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