A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315650



Internal ID22141581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237789505..237789505hg38UCSC Ensembl
chr1:237952805..237952805hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561804
Supporting Variants
SamplesHG00513
Known GenesRYR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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