A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561804



Internal ID22430572
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315651, nssv14315650
SamplesHG00513, HG00514
Known GenesRYR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561804
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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