A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199563



Internal ID21647072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29164476..29164476hg38UCSC Ensembl
chr2:29387342..29387342hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682477
Supporting Variants
Samples
Known GenesCLIP4
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)nssv17199563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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