A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361327



Internal ID22586996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49188023..49188088hg38UCSC Ensembl
chr12:49581806..49581871hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940686
Supporting Variants
Samples
Known GenesTUBA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361327
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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