A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699855



Internal ID21726176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55751675..55751675hg38UCSC Ensembl
chr17:53829036..53829036hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200308, nssv17219219
Samples
Known GenesPCTP
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)nsv5699855
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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