A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205804



Internal ID21653313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67713475..67713475hg38UCSC Ensembl
chr2:67940607..67940607hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684963
Supporting Variants
Samples
Known Genes
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)nssv17205804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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