A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676219



Internal ID21702540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150373554..150373554hg38UCSC Ensembl
chr1:150346030..150346030hg19UCSC Ensembl
Cytoband1q21.3
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 Variantsnssv17204696, nssv17178548
Samples
Known GenesRPRD2
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)nsv5676219
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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