A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686677



Internal ID21712998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42571481..42571481hg38UCSC Ensembl
chr7:42611080..42611080hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214406, nssv17182761
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)nsv5686677
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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