A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2154352



Internal ID17854928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51396414..51403259hg38UCSC Ensembl
Innerchr19:51899668..51906513hg19UCSC Ensembl
Innerchr19:56591480..56598325hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386846
hg196846
hg186846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978836
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2154352
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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