A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202496



Internal ID20769536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237665401..237671400hg38UCSC Ensembl
chr1:237828701..237834700hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332541
Supporting Variants
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202496
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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