A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214339



Internal ID22361020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130496953..130510297hg38UCSC Ensembl
chr9:133372340..133385684hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3813345
hg1913345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9764n152
Supporting Variantsnssv14437410
SamplesHG00733
Known GenesASS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214339
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