A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045180



Internal ID97872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65201739..65203566hg38UCSC Ensembl
chr11:64969210..64971037hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381828
hg191828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501000
Supporting Variants
Samples
Known GenesCAPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045180
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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