A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185374



Internal ID22338640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17552513..17552599hg38UCSC Ensembl
chr8:17410022..17410108hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437832, nssv14466652, nssv14391321
SamplesNA19240, HG00733, HG00514
Known GenesSLC7A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185374
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