A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691757



Internal ID21718078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38946077..38946077hg38UCSC Ensembl
chr6:38913853..38913853hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179544
Samples
Known GenesDNAH8, LOC100131047
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)nsv5691757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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