A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526554



Internal ID302680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43719050..43731363hg38UCSC Ensembl
chr19:44223202..44235515hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3812314
hg1912314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725197
Samples
Known GenesIRGC, SMG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526554
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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