A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451587



Internal ID229765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:67385378..67393735hg38UCSC Ensembl
chr3:67435802..67444159hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg388358
hg198358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934779
Samples
Known GenesSUCLG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451587
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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