A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700951



Internal ID21727272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51624877..51624877hg38UCSC Ensembl
chr15:51917074..51917074hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230847, nssv17197498
Samples
Known Genes
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)nsv5700951
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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