A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009341



Internal ID73863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32035184..32035235hg38UCSC Ensembl
chr8:31892700..31892751hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413746
Supporting Variants
Samples
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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