A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190306



Internal ID20757346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9447916..9454480hg38UCSC Ensembl
chr17:9351233..9357797hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386565
hg196565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504632
Supporting Variants
Samples
Known GenesSTX8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190306
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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