A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395298



Internal ID22288683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114633153..114633299hg38UCSC Ensembl
chr2:115390730..115390876hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3177493
Supporting Variants
SamplesNA19240
Known GenesDPP10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395298
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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