A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521912



Internal ID298189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16124144..16124752hg38UCSC Ensembl
chr19:16234954..16235562hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721839
Samples
Known GenesRAB8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521912
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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