A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698666



Internal ID21724987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130884516..130884516hg38UCSC Ensembl
chr7:130569275..130569275hg19UCSC Ensembl
Cytoband7q32.3
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 Variantsnssv17226803, nssv17184021
Samples
Known GenesLOC646329
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)nsv5698666
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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