A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221621



Internal ID22365943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126698859..126706350hg38UCSC Ensembl
chr9:129461138..129468629hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg387492
hg197492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9751n152
Supporting Variantsnssv14410808
SamplesHG00514
Known GenesLMX1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221621
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