A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693522



Internal ID21719843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173916083..173916083hg38UCSC Ensembl
chr1:173885221..173885221hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183727
Samples
Known GenesSERPINC1
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)nsv5693522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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