A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689356



Internal ID113022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78876128..78882128hg38UCSC Ensembl
chr12:79269908..79275908hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494990
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689356
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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