A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695432



Internal ID21721753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17077770..17077770hg38UCSC Ensembl
chr17:16981084..16981084hg19UCSC Ensembl
Cytoband17p11.2
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 Variantsnssv17225068, nssv17200219
Samples
Known GenesMPRIP
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)nsv5695432
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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