A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554323



Internal ID22423186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44110318..44110318hg38UCSC Ensembl
chr21:45530199..45530199hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396306
SamplesNA19240
Known GenesPWP2
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)nsv3554323
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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