A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447519



Internal ID22243102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31823409..31825448hg38UCSC Ensembl
chr2:32048478..32050517hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181004
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447519
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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