A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718489



Internal ID142155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57732131..57732131hg38UCSC Ensembl
chr18:55399363..55399363hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539264
Supporting Variants
Samples
Known GenesATP8B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.849086


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