A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454563



Internal ID22512439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79230772..79234673hg38UCSC Ensembl
chr12:79624552..79628453hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849844
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454563
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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