A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6088633



Internal ID21997866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79293410..79293410hg38UCSC Ensembl
chr12:79687190..79687190hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603810
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6088633
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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