A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523696



Internal ID22393124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63488529..63488529hg38UCSC Ensembl
chr17:61565890..61565890hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446011, nssv14418653
SamplesHG00733, HG00514
Known GenesACE
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)nsv3523696
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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