A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218709



Internal ID22363967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124840557..124854767hg38UCSC Ensembl
Outerchr9:127602836..127617046hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3814211
hg1914211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282874
SamplesHG00514
Known GenesWDR38
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218709
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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