A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178524



Internal ID22335041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:474726..474796hg38UCSC Ensembl
chr5:474841..474911hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436360, nssv14410584, nssv14453831
SamplesNA19240, HG00733, HG00514
Known GenesSLC9A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3178524
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