A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693635



Internal ID21719956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646395..215646395hg38UCSC Ensembl
chr1:215819737..215819737hg19UCSC Ensembl
Cytoband1q41
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 Variantsnssv17206329, nssv17189810
Samples
Known GenesUSH2A
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)nsv5693635
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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