A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414883



Internal ID22150351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230230182..230230293hg38UCSC Ensembl
chr1:230365928..230366039hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188406
Supporting Variants
SamplesHG00514
Known GenesGALNT2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414883
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