A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208463



Internal ID22356700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111502073..111502164hg38UCSC Ensembl
chr1:112044695..112044786hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv375n152
Supporting Variantsnssv14431555
SamplesHG00514
Known GenesADORA3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208463
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