A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423480



Internal ID22162456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54222008..54222591hg38UCSC Ensembl
chr3:54256035..54256618hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232232
Supporting Variants
SamplesHG00514
Known GenesCACNA2D3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14423480
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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