A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996978



Internal ID20564018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111575132..111589734hg38UCSC Ensembl
chr12:112012936..112027538hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3814603
hg1914603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487089
Supporting Variants
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996978
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00105


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