A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521559



Internal ID22390975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162791518..162791518hg38UCSC Ensembl
chr1:162761308..162761308hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413297, nssv14438933, nssv14387284
SamplesNA19240, HG00733, HG00514
Known GenesHSD17B7
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)nsv3521559
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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