A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724467



Internal ID21750788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183481880..183481880hg38UCSC Ensembl
chr1:183451015..183451015hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240072, nssv17244606
Samples
Known GenesSMG7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724467
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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