A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685335



Internal ID109001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128675788..128679995hg38UCSC Ensembl
chr12:129160333..129164540hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384208
hg194208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498090
Supporting Variants
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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