A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171797



Internal ID20738837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94460701..94465200hg38UCSC Ensembl
chr8:95472929..95477428hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419884
Supporting Variants
Samples
Known GenesRAD54B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171797
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00084


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