A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405003



Internal ID184348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32124361..32124412hg38UCSC Ensembl
chr8:31981877..31981928hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009348
Samples
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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