A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526812



Internal ID302927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58231864..58232333hg38UCSC Ensembl
chr18:55899096..55899565hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718508
Samples
Known GenesNEDD4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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