A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2145836



Internal ID17888190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34018867..34023284hg38UCSC Ensembl
Innerchr19:34509772..34514189hg19UCSC Ensembl
Innerchr19:39201612..39206029hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384418
hg194418
hg184418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960827
Supporting Variants
SamplesHGDP01307
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)nssv2145836
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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