A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694509



Internal ID21720830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15237237..15237237hg38UCSC Ensembl
chr17:15140554..15140554hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199244
Samples
Known GenesPMP22
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)nsv5694509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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