A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013482



Internal ID76662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86471366..86472794hg38UCSC Ensembl
chr8:87483595..87485023hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486265
Supporting Variants
Samples
Known GenesRMDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013482
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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