A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007425



Internal ID72591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12819981..12820621hg38UCSC Ensembl
chr8:12677490..12678130hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475552
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001717


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