A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545404



Internal ID22414414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19448418..19448418hg38UCSC Ensembl
chr22:19435941..19435941hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383841
hg193841
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422725
SamplesHG00514
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)nsv3545404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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