A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685326



Internal ID108992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128601576..128601758hg38UCSC Ensembl
chr12:129086121..129086303hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495159
Supporting Variants
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685326
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006712


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