A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239294



Internal ID21686803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41943176..41943176hg38UCSC Ensembl
chr6:41910914..41910914hg19UCSC 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 Variantsnsv5719278
Supporting Variants
Samples
Known GenesCCND3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17239294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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