A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235466



Internal ID21682975
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 StatusS
Merged Variantsnsv5724497
Supporting Variants
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)nssv17235466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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