A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226982



Internal ID22369608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133817805..133835096hg38UCSC Ensembl
Outerchr9:136682927..136700218hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3817292
hg1917292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281981, nssv14281982, nssv14281979, nssv14281980
SamplesNA19240, HG00733, HG00513, HG00514
Known GenesVAV2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226982
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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