A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690624



Internal ID21716945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161115488..161115488hg38UCSC Ensembl
chr6:161536520..161536520hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181924
Samples
Known GenesMAP3K4
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)nsv5690624
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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