A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561309



Internal ID22430091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451722..182451722hg38UCSC Ensembl
chr1:182420857..182420857hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297240, nssv14297242, nssv14297243, nssv14297241, nssv14297244
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesRGSL1
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)nsv3561309
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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