A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225531



Internal ID22368631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127270512..127275998hg38UCSC Ensembl
Outerchr9:130032791..130038277hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385487
hg195487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281955
SamplesNA19239
Known GenesGARNL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225531
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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