A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516820



Internal ID293269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17605475..17605534hg38UCSC Ensembl
chr19:17716284..17716343hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721961
Samples
Known GenesUNC13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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