A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191293



Internal ID20758333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11322264..11362740hg38UCSC Ensembl
chr12:11475198..11515674hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3840477
hg1940477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466758
Supporting Variants
Samples
Known GenesPRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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