A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728520



Internal ID21754841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224711304..224711304hg38UCSC Ensembl
chr1:224899006..224899006hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239215
Samples
Known GenesCNIH3
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)nsv5728520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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