A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171245



Internal ID20738285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80125390..80131197hg38UCSC Ensembl
chr8:81037625..81043432hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385808
hg195808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432335
Supporting Variants
Samples
Known GenesTPD52
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171245
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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