A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696977



Internal ID21723298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14185297..14185297hg38UCSC Ensembl
chr17:14088614..14088614hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227591, nssv17199221
Samples
Known GenesCOX10
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)nsv5696977
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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