A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507183



Internal ID283912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18572000..18578000hg38UCSC Ensembl
chr11:18593547..18599547hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044657
Samples
Known GenesUEVLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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