A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014695



Internal ID77462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100572863..100573256hg38UCSC Ensembl
chr8:101585091..101585484hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487800
Supporting Variants
Samples
Known GenesSNX31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014695
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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