A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193067



Internal ID20760107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8311354..8628664hg38UCSC Ensembl
chr12:8463950..8781260hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38317311
hg19317311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460948
Supporting Variants
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A, LINC00937
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193067
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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