A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2799995



Internal ID21245335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38554331..38554331hg38UCSC Ensembl
chr19:39044971..39044971hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13704220
Samples
Known GenesRYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2799995
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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