A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695468



Internal ID21721789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49295410..49295410hg38UCSC Ensembl
chr17:47372772..47372772hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230323, nssv17199946
Samples
Known GenesZNF652
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)nsv5695468
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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