A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222220



Internal ID20789260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12749001..12754400hg38UCSC Ensembl
chr8:12606510..12611909hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428402
Supporting Variants
Samples
Known GenesLONRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222220
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00061


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