A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682704



Internal ID21709025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205300975..205300975hg38UCSC Ensembl
chr1:205270103..205270103hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188691, nssv17206761
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)nsv5682704
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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