A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697185



Internal ID21723506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50548883..50548883hg38UCSC Ensembl
chr10:52308643..52308643hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188536, nssv17229727
Samples
Known GenesSGMS1
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)nsv5697185
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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