A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931601



Internal ID22706888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16124142..16124751hg38UCSC Ensembl
chr19:16234952..16235561hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394047
Samples
Known GenesRAB8A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931601
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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