A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487089



Internal ID21144642
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 StatusM
Merged Variants
Supporting Variantsnssv17996978
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487089
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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