A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701713



Internal ID21728034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:63590858..63590858hg38UCSC Ensembl
chr10:65350618..65350618hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221588, nssv17188807
Samples
Known GenesREEP3
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)nsv5701713
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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