A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396282



Internal ID22301211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53293790..53294252hg38UCSC Ensembl
chr3:53327820..53328282hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185492
Supporting Variants
SamplesNA19240
Known GenesDCP1A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396282
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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