A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709876



Internal ID21736197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28912071..28912071hg38UCSC Ensembl
chr17:27239089..27239089hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214332, nssv17199898
Samples
Known GenesPHF12
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)nsv5709876
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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