A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393630



Internal ID22451500
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 StatusS
Merged Variantsnsv5939896
Supporting Variants
Samples
Known GenesBAX, DHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393630
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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