A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5864135



Internal ID22639070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78876342..78881867hg38UCSC Ensembl
chr12:79270122..79275647hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457682
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5864135
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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