A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560856



Internal ID22429654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31597996..31597996hg38UCSC Ensembl
chr17:29925015..29925015hg19UCSC Ensembl
Cytoband17q11.2
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 Variantsnssv14383264, nssv14376887
SamplesHG00512, 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)nsv3560856
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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