A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199676



Internal ID22349229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72141601..72152000hg38UCSC Ensembl
chr2:72368730..72379129hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4625n152
Supporting Variantsnssv14406435
SamplesNA19240
Known GenesCYP26B1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer