A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598535



Internal ID21790580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111514025..111515733hg38UCSC Ensembl
chr12:111951829..111953537hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg381709
hg191709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6021341
Supporting Variants
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598535
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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