A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17214378



Internal ID21661887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42935953..42935953hg38UCSC Ensembl
chr6:42903691..42903691hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682503
Supporting Variants
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)nssv17214378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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