A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554576



Internal ID327757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85818873..85818924hg38UCSC Ensembl
chr3:85868023..85868074hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934482
Samples
Known GenesCADM2, CADM2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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