A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206813



Internal ID22355302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591114..237591189hg38UCSC Ensembl
chr1:237754414..237754489hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626n152
Supporting Variantsnssv14457301
SamplesHG00733
Known GenesRYR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206813
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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