A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282280



Internal ID22380613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:11468467..11468569hg38UCSC Ensembl
chr4:11470091..11470193hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6476n152
Supporting Variantsnssv14409447
SamplesNA19240
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)nsv3282280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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