A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554554



Internal ID22423413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30454474..30454474hg38UCSC Ensembl
chr22:30850461..30850461hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422783
SamplesHG00514
Known Genes
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)nsv3554554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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