A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686378



Internal ID21712699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73479109..73479109hg38UCSC Ensembl
chr7:72893439..72893439hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182003, nssv17227860
Samples
Known GenesBAZ1B
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)nsv5686378
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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