A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545518



Internal ID319555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39351441..39351447hg38UCSC Ensembl
chr13:39925578..39925584hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687034
Samples
Known GenesLHFP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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