A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681858



Internal ID21708179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23621410..23621410hg38UCSC Ensembl
chr7:23661029..23661029hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181659, nssv17228496
Samples
Known GenesCCDC126
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)nsv5681858
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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