A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679903



Internal ID21706224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77229778..77229778hg38UCSC Ensembl
chr7:76859095..76859095hg19UCSC 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 Variantsnssv17227727, nssv17182044
Samples
Known GenesCCDC146
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)nsv5679903
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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