A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682503



Internal ID21708824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42935953..42935953hg38UCSC Ensembl
chr6:42903691..42903691hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180531, nssv17214378
Samples
Known GenesCNPY3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5682503
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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