A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707427



Internal ID21733748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91362802..91362802hg38UCSC Ensembl
chr10:93122559..93122559hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189152, nssv17231733
Samples
Known GenesLOC100188947
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)nsv5707427
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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