A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685333



Internal ID108999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128664135..128665249hg38UCSC Ensembl
chr12:129148680..129149794hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505579
Supporting Variants
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685333
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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