A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700248



Internal ID21726569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101099083..101099083hg38UCSC Ensembl
chr9:103861365..103861365hg19UCSC Ensembl
Cytoband9q31.1
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 Variantsnssv17186860, nssv17229785
Samples
Known GenesLPPR1
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)nsv5700248
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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