A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531093



Internal ID307056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39530314..39535333hg38UCSC Ensembl
chr19:40020954..40025973hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385020
hg195020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723343
Samples
Known GenesEID2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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