A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6023574



Internal ID21932917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79249395..79257472hg38UCSC Ensembl
chr12:79643175..79651252hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388078
hg198078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613104
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6023574
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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