A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983186



Internal ID56171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41943176..41943227hg38UCSC Ensembl
chr6:41910914..41910965hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557823
Supporting Variants
Samples
Known GenesCCND3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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