A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553563



Internal ID22422442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49917986..49917986hg38UCSC Ensembl
chr22:50311634..50311634hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396950
SamplesNA19240
Known GenesALG12
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)nsv3553563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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