A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2136741



Internal ID17733062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16099920..16102759hg38UCSC Ensembl
Innerchr19:16210730..16213569hg19UCSC Ensembl
Innerchr19:16071730..16074569hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382840
hg192840
hg182840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960804
Supporting Variants
SamplesHGDP00456
Known GenesTPM4
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)nssv2136741
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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