A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697608



Internal ID21723929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73110275..73110275hg38UCSC Ensembl
chr11:72821320..72821320hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191242, nssv17222626
Samples
Known GenesFCHSD2
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)nsv5697608
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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