A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702047



Internal ID21728368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30472347..30472347hg38UCSC Ensembl
chr16:30483668..30483668hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199017
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)nsv5702047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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