A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690728



Internal ID114394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114395858..114396228hg38UCSC Ensembl
chr12:114833663..114834033hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512500
Supporting Variants
Samples
Known GenesTBX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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