A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518398



Internal ID294787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40447657..40453024hg38UCSC Ensembl
chr19:40953564..40958931hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723407
Samples
Known GenesBLVRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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