A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063345



Internal ID21505319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591114..237591188hg38UCSC Ensembl
chr1:237754414..237754488hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581732
Supporting Variants
SamplesNA19650
Known GenesRYR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063345
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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