A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699325



Internal ID21725646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2761079..2761079hg38UCSC Ensembl
chr16:2811080..2811080hg19UCSC Ensembl
Cytoband16p13.3
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 Variantsnssv17198274, nssv17222176
Samples
Known GenesSRRM2
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)nsv5699325
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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