A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545427



Internal ID319473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13494662..13494662hg38UCSC Ensembl
chr18:13494661..13494661hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716374
Samples
Known GenesLDLRAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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