A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522570



Internal ID22391992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606185..57606185hg38UCSC Ensembl
chr1:58071857..58071857hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413154, nssv14438836
SamplesHG00733, HG00514
Known GenesDAB1
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)nsv3522570
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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