A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232467



Internal ID20799507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79758601..79792500hg38UCSC Ensembl
chr8:80670836..80704735hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3833900
hg1933900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6419276
Supporting Variants
Samples
Known GenesHEY1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232467
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00084


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