A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215504



Internal ID20782544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124913214..125239682hg38UCSC Ensembl
chr6:125234360..125560828hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38326469
hg19326469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606291
Supporting Variants
Samples
Known GenesRNF217, STL, TPD52L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215504
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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