A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518662



Internal ID295038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13543080..13550855hg38UCSC Ensembl
chr18:13543079..13550854hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387776
hg197776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716378
Samples
Known GenesLDLRAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518662
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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