A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279801



Internal ID22378106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184624467..184624587hg38UCSC Ensembl
chr4:185545621..185545741hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14456144
SamplesHG00733
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)nsv3279801
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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