A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014201



Internal ID77141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98067678..98069372hg38UCSC Ensembl
chr8:99079906..99081600hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493299
Supporting Variants
Samples
Known GenesC8orf47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014201
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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