A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466652



Internal ID22225564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17552513..17552599hg38UCSC Ensembl
chr8:17410022..17410108hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185374
Supporting Variants
SamplesHG00733
Known GenesSLC7A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466652
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