A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281982



Internal ID22310375
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226982
Supporting Variants
SamplesNA19240
Known GenesVAV2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281982
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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