A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502563



Internal ID279424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78882846..78962483hg38UCSC Ensembl
chr12:79276626..79356263hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3879638
hg1979638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689359
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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