A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459269



Internal ID22211820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184652860..184652942hg38UCSC Ensembl
chr4:185574014..185574096hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282583
Supporting Variants
SamplesHG00733
Known GenesPRIMPOL
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)nssv14459269
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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