A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2133246



Internal ID17734314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12096099..12097457hg38UCSC Ensembl
Innerchr19:12206914..12208272hg19UCSC Ensembl
Innerchr19:12067914..12069272hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961177
Supporting Variants
SamplesHGDP00456
Known GenesZNF788
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)nssv2133246
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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