A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17431844



Internal ID22489714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32134940..32367244hg38UCSC Ensembl
chr8:31992456..32224760hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38232305
hg19232305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918019
Supporting Variants
Samples
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17431844
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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