A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689389



Internal ID113055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79352773..79352977hg38UCSC Ensembl
chr12:79746553..79746757hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508539
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689389
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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