A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554943



Internal ID22423792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113468158..113468158hg38UCSC Ensembl
chr11:113338880..113338880hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415970
SamplesHG00514
Known GenesDRD2
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)nsv3554943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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