A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182897



Internal ID20749937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79311201..79323400hg38UCSC Ensembl
chr12:79704981..79717180hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3812200
hg1912200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472601
Supporting Variants
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182897
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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