A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989551



Internal ID60459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158998014..158999213hg38UCSC Ensembl
chr6:159419046..159420245hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140656
Supporting Variants
Samples
Known GenesRSPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010246


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