A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713061



Internal ID21739382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61555578..61555578hg38UCSC Ensembl
chr11:61323050..61323050hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190083, nssv17219098
Samples
Known GenesSYT7
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)nsv5713061
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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