A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554031



Internal ID22422899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40620306..40620306hg38UCSC Ensembl
chr21:41992232..41992232hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395684
SamplesNA19240
Known GenesDSCAM, DSCAM-IT1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3554031
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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