A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188248



Internal ID20755288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16198162..16497969hg38UCSC Ensembl
chr12:16351096..16650903hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38299808
hg19299808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467200
Supporting Variants
Samples
Known GenesMGST1, SLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188248
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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