A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531536



Internal ID307493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13485210..13491740hg38UCSC Ensembl
chr18:13485209..13491739hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386531
hg196531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716373
Samples
Known GenesLDLRAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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