A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697755



Internal ID21724076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49660051..49660051hg38UCSC Ensembl
chr17:47737413..47737413hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222907, nssv17199952
Samples
Known GenesSPOP
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)nsv5697755
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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