A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677612



Internal ID21703933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291679..160291679hg38UCSC Ensembl
chr1:160261469..160261469hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204758, nssv17180793
Samples
Known GenesCOPA
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)nsv5677612
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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