A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195597



Internal ID20762637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45984601..46036500hg38UCSC Ensembl
chr12:46378384..46430283hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3851900
hg1951900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470261
Supporting Variants
Samples
Known GenesSCAF11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00082


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