A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706722



Internal ID21733043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28623717..28623717hg38UCSC Ensembl
chr17:26950735..26950735hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199892, nssv17230225
Samples
Known GenesKIAA0100
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)nsv5706722
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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