A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179049



Internal ID20746089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8209501..8228500hg38UCSC Ensembl
chr12:8362097..8381096hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819000
hg1919000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455845
Supporting Variants
Samples
Known GenesFAM90A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179049
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.19161


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