A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677675



Internal ID21703996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154585448..154585448hg38UCSC Ensembl
chr4:155506600..155506600hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212730, nssv17174791
Samples
Known GenesFGA
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)nsv5677675
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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