A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407968



Internal ID22285294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230315349..230315457hg38UCSC Ensembl
chr1:230451095..230451203hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170996
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)nssv14407968
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