A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003789



Internal ID20570829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79355184..79359644hg38UCSC Ensembl
chr12:79748964..79753424hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384461
hg194461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461295
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003789
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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