A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2146376



Internal ID17798381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36253476..36322867hg38UCSC Ensembl
Innerchr19:36744378..36813769hg19UCSC Ensembl
Innerchr19:41436218..41505609hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3869392
hg1969392
hg1869392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960831
Supporting Variants
SamplesHGDP00778
Known GenesLINC00665, LOC100134317
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)nssv2146376
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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