A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996973



Internal ID20564013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111459002..111459731hg38UCSC Ensembl
chr12:111896806..111897535hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483112
Supporting Variants
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996973
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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