A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527282



Internal ID303383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21668011..21690412hg38UCSC Ensembl
chr18:19247972..19270373hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3822402
hg1922402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716548
Samples
Known GenesABHD3, MIR320C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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