A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448359



Internal ID22243831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26333427..26336722hg38UCSC Ensembl
chr2:26556295..26559590hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383296
hg193296
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180963
Supporting Variants
SamplesHG00733
Known GenesGPR113
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448359
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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