A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17625043



Internal ID21817090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48935540..48959076hg38UCSC Ensembl
chr19:49438797..49462333hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3823537
hg1923537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6058795
Supporting Variants
Samples
Known GenesBAX, DHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17625043
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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