A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692964



Internal ID21719285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112068840..112068840hg38UCSC Ensembl
chr6:112390043..112390043hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226075, nssv17179606
Samples
Known GenesWISP3
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)nsv5692964
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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