A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281901



Internal ID22278606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40272468..40341183hg38UCSC Ensembl
Outerchr9:42417486..42486201hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3868716
hg1968716
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210593
Supporting Variants
SamplesNA19239
Known GenesFAM95B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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