A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2133639



Internal ID17409498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12528443..12530238hg38UCSC Ensembl
Innerchr19:12639257..12641052hg19UCSC Ensembl
Innerchr19:12500257..12502052hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381796
hg191796
hg181796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960794
Supporting Variants
SamplesHGDP00521
Known GenesZNF564
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)nssv2133639
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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