A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712398



Internal ID21738719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96344284..96344284hg38UCSC Ensembl
chr9:99106566..99106566hg19UCSC Ensembl
Cytoband9q22.32
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 Variantsnssv17186723, nssv17216045
Samples
Known GenesSLC35D2
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)nsv5712398
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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