A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520993



Internal ID297300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9404099..9407319hg38UCSC Ensembl
chr18:9404097..9407317hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715315
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520993
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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