A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019312



Internal ID80503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144273765..144273833hg38UCSC Ensembl
chr8:145497753..145497821hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142439
Supporting Variants
Samples
Known GenesBOP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005168


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