A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697688



Internal ID21724009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47261439..47261439hg38UCSC Ensembl
chr17:45338805..45338805hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223247, nssv17199913
Samples
Known GenesITGB3
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)nsv5697688
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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