A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724497



Internal ID21750818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77685623..77685623hg38UCSC Ensembl
chr14:78151966..78151966hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235466, nssv17242670
Samples
Known GenesALKBH1
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)nsv5724497
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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