A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191206



Internal ID20758246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120432636..120451554hg38UCSC Ensembl
chr12:120870439..120889357hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818919
hg1918919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492073
Supporting Variants
Samples
Known GenesCOX6A1, GATC, TRIAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191206
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00148


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