A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699512



Internal ID21725833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14962843..14962843hg38UCSC Ensembl
chr21:16335164..16335164hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204289, nssv17232776
Samples
Known GenesNRIP1
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)nsv5699512
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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