A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018032



Internal ID79674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126547367..126551296hg38UCSC Ensembl
chr8:127559612..127563541hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383930
hg193930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492632
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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