A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014724



Internal ID77482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100781639..100783181hg38UCSC Ensembl
chr8:101793867..101795409hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475527
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014724
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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