A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398785



Internal ID178180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32018461..32018512hg38UCSC Ensembl
chr8:31875977..31876028hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009339
Samples
Known GenesNRG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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