A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233913



Internal ID20800954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80979001..81477900hg38UCSC Ensembl
chr8:81891236..82390135hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38498900
hg19498900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432269
Supporting Variants
Samples
Known GenesFABP5, FABP9, PAG1, PMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233913
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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