A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520074



Internal ID22389483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351257..78351257hg38UCSC Ensembl
chr17:76347338..76347338hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419668, nssv14382555, nssv14447299
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520074
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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