A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703689



Internal ID21730010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75621272..75621272hg38UCSC Ensembl
chr16:75655170..75655170hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223066, nssv17199425
Samples
Known GenesADAT1
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)nsv5703689
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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