A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696525



Internal ID21722846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:33217441..33217441hg38UCSC Ensembl
chr10:33506369..33506369hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213739, nssv17188728
Samples
Known GenesNRP1
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)nsv5696525
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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