A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564100



Internal ID22432835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76001304..76001304hg38UCSC Ensembl
chr4:76922457..76922457hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314316, nssv14314315
SamplesHG00513, HG00514
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)nsv3564100
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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