A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420575



Internal ID22158255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26333427..26336715hg38UCSC Ensembl
chr2:26556295..26559583hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383289
hg193289
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189790
Supporting Variants
SamplesHG00514
Known GenesGPR113
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14420575
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