A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190250



Internal ID20757290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80355306..80355380hg38UCSC Ensembl
chr17:78329106..78329180hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524701
Supporting Variants
Samples
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190250
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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