A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178475



Internal ID20745515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75929772..75959758hg38UCSC Ensembl
chr17:73925853..73955839hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3829987
hg1929987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524619
Supporting Variants
Samples
Known GenesACOX1, FBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178475
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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