A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010986



Internal ID74967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49773151..49773237hg38UCSC Ensembl
chr8:50685711..50685797hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484841
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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