A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179457



Internal ID22335569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48649471..48649587hg38UCSC Ensembl
chr4:48651488..48651604hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452624
SamplesHG00733
Known GenesFRYL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179457
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