A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2133895



Internal ID17418683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12207174..12207795hg38UCSC Ensembl
Innerchr19:12317989..12318610hg19UCSC Ensembl
Innerchr19:12178989..12179610hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963007
Supporting Variants
SamplesHGDP00542
Known GenesLOC100289333
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)nssv2133895
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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