A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179140



Internal ID20746180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51329237..51330953hg38UCSC Ensembl
chr12:51723021..51724737hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381717
hg191717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459055
Supporting Variants
Samples
Known GenesCELA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179140
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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