A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190774



Internal ID20757814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75318506..75321924hg38UCSC Ensembl
chr16:75352404..75355822hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498323
Supporting Variants
Samples
Known GenesCFDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190774
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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