A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441802



Internal ID22107983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38554203..38554203hg38UCSC Ensembl
chr19:39044843..39044843hg19UCSC 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 Variantsnssv15762075
Samples
Known GenesRYR1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441802
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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