A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697138



Internal ID21723459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44995428..44995428hg38UCSC Ensembl
chr13:45569563..45569563hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213787, nssv17193890
Samples
Known GenesGPALPP1
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)nsv5697138
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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