A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543457



Internal ID317707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32173551..32173602hg38UCSC Ensembl
chr8:32031067..32031118hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009355
Samples
Known GenesNRG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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