A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561645



Internal ID22430413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240618200..240618200hg38UCSC Ensembl
chr1:240781500..240781500hg19UCSC Ensembl
Cytoband1q43
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 Variantsnssv14318315, nssv14318316
SamplesHG00731, HG00732
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)nsv3561645
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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