A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685403



Internal ID109069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129503283..129507661hg38UCSC Ensembl
chr12:129987828..129992206hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384379
hg194379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510542
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685403
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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