A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202483



Internal ID20769523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237016219..237360302hg38UCSC Ensembl
chr1:237179519..237523602hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38344084
hg19344084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320670
Supporting Variants
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202483
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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