A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989301



Internal ID60289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148480398..148482739hg38UCSC Ensembl
chr6:148801534..148803875hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463729
Supporting Variants
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989301
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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