A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713232



Internal ID21739553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17293692..17293692hg38UCSC Ensembl
chr19:17404501..17404501hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199795
Samples
Known GenesABHD8
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)nsv5713232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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