A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677937



Internal ID21704258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:171041966..171041966hg38UCSC Ensembl
chr4:171963117..171963117hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174979
Samples
Known GenesLOC100506122
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)nsv5677937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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