A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540146



Internal ID314957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180000660..180000696hg38UCSC Ensembl
chr3:179718448..179718484hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943673
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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