A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533121



Internal ID22402438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142000088..142000088hg38UCSC Ensembl
chr5:141379653..141379653hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462642, nssv14399885
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3533121
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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