A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012047



Internal ID75704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73000616..73001463hg38UCSC Ensembl
chr8:73912851..73913698hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490185
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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