A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241085



Internal ID22374871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93210556..93223766hg38UCSC Ensembl
Outerchr9:95972838..95986048hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253136
SamplesHG00513
Known GenesWNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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