A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939896



Internal ID22715296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48935690..48959222hg38UCSC Ensembl
chr19:49438947..49462479hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3823533
hg1923533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393630
Samples
Known GenesBAX, DHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939896
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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