A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708436



Internal ID21734757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47637171..47637171hg38UCSC Ensembl
chr17:45714537..45714537hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219304, nssv17199920
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)nsv5708436
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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