A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674780



Internal ID21701101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72305622..72305622hg38UCSC Ensembl
chr4:73171339..73171339hg19UCSC Ensembl
Cytoband4q13.3
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 Variantsnssv17209617, nssv17173374
Samples
Known GenesADAMTS3
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)nsv5674780
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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