A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215126



Internal ID20782166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180033504..180250532hg38UCSC Ensembl
chr5:179460504..179677532hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38217029
hg19217029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400074
Supporting Variants
Samples
Known GenesMAPK9, RASGEF1C, RNF130
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215126
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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