A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013761



Internal ID76853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68497028..68504451hg38UCSC Ensembl
chr8:69409263..69416686hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg387424
hg197424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489606
Supporting Variants
Samples
Known GenesC8orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013761
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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