A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897964



Internal ID172798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237185731..237195739hg38UCSC Ensembl
chr1:237349031..237359039hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810009
hg1910009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435780
Supporting Variants
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897964
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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