A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225721



Internal ID20792761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123862001..123864700hg38UCSC Ensembl
chr8:124874241..124876940hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427068
Supporting Variants
Samples
Known GenesFER1L6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225721
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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