A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2136496



Internal ID17786638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15646299..15653474hg38UCSC Ensembl
Innerchr19:15757109..15764284hg19UCSC Ensembl
Innerchr19:15618109..15625284hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387176
hg197176
hg187176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963014
Supporting Variants
SamplesHGDP00665
Known GenesCYP4F3
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)nssv2136496
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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