A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722751



Internal ID21749072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14194620..14194620hg38UCSC Ensembl
chr3:14236120..14236120hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234559, nssv17248712
Samples
Known GenesLSM3
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)nsv5722751
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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