A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018551



Internal ID80009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123444842..123444964hg38UCSC Ensembl
chr8:124457082..124457204hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475139
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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