A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5849844



Internal ID22624779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79230772..79234673hg38UCSC Ensembl
chr12:79624552..79628453hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17454563
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5849844
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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