A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044929



Internal ID21954199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38554228..38554421hg38UCSC Ensembl
chr19:39044868..39045061hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17626342
Samples
Known GenesRYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044929
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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