A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228244



Internal ID20795284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81517501..81530600hg38UCSC Ensembl
chr8:82429736..82442835hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3813100
hg1913100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426508
Supporting Variants
Samples
Known GenesFABP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228244
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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