A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563725



Internal ID22432461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174911595..174911595hg38UCSC Ensembl
chr4:175832746..175832746hg19UCSC Ensembl
Cytoband4q34.1
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 Variantsnssv14317949
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563725
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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