A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712780



Internal ID21739101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125816870..125816870hg38UCSC Ensembl
chr10:127505439..127505439hg19UCSC Ensembl
Cytoband10q26.2
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 Variantsnssv17189386, nssv17228029
Samples
Known GenesUROS
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)nsv5712780
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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