A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2154526



Internal ID17442254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49033751..49059401hg38UCSC Ensembl
Innerchr19:49537008..49562658hg19UCSC Ensembl
Innerchr19:54228820..54254470hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3825651
hg1925651
hg1825651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978832
Supporting Variants
SamplesHGDP00665
Known GenesCGB1, CGB5, CGB7, CGB8, SNAR-G1
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)nssv2154526
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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