A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725874



Internal ID21752195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151888581..151888581hg38UCSC Ensembl
chr1:151861057..151861057hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248620
Samples
Known GenesTHEM4
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)nsv5725874
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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