A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678832



Internal ID21705153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162359986..162359986hg38UCSC Ensembl
chr2:163216496..163216496hg19UCSC Ensembl
Cytoband2q24.2
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 Variantsnssv17209347, nssv17215930
Samples
Known GenesGCA
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)nsv5678832
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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