A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714057



Internal ID21740378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30677320..30677320hg38UCSC Ensembl
chr16:30688641..30688641hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199021
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)nsv5714057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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