A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521657



Internal ID297945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17353957..17355227hg38UCSC Ensembl
chr19:17464766..17466036hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381271
hg191271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721939
Samples
Known GenesPLVAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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