A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970899



Internal ID47936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:140312513..140314562hg38UCSC Ensembl
chr6:140633650..140635699hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468829
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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