A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193918



Internal ID20760959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82664860..83182172hg38UCSC Ensembl
chr17:80622736..81129941hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38517313
hg19507206
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529829
Supporting Variants
Samples
Known GenesB3GNTL1, FN3K, FN3KRP, METRNL, RAB40B, TBCD, ZNF750
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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