A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014286



Internal ID77193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103119910..103123426hg38UCSC Ensembl
chr8:104132138..104135654hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484516
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014286
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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