A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17531806



Internal ID21856162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237054208..237054208hg38UCSC Ensembl
chr1:237217508..237217508hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6042961
Supporting Variants
Samples
Known GenesRYR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17531806
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer