A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188968



Internal ID20756008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25106344..25114717hg38UCSC Ensembl
chr12:25259278..25267651hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg388374
hg198374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466215
Supporting Variants
Samples
Known GenesCASC1, LRMP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188968
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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