A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280119



Internal ID22378429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20981522..20981619hg38UCSC Ensembl
chr1:21308015..21308112hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378467
SamplesNA19240
Known GenesEIF4G3
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)nsv3280119
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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