A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395214



Internal ID22288008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27167748..27167819hg38UCSC Ensembl
chr2:27390616..27390687hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184411
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395214
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer