A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18046792



Internal ID20613832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314063..46315533hg38UCSC Ensembl
chr19:46817320..46818790hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526310
Supporting Variants
Samples
Known GenesHIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18046792
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.13259


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