A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708317



Internal ID21734638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73249716..73249716hg38UCSC Ensembl
chr17:71245855..71245855hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214488, nssv17200715
Samples
Known GenesCPSF4L
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5708317
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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