A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983196



Internal ID56175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42033026..42033077hg38UCSC Ensembl
chr6:42000764..42000815hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555214
Supporting Variants
Samples
Known GenesCCND3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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