A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281924



Internal ID22272738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69677726..69712838hg38UCSC Ensembl
Outerchr9:72292642..72327754hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3835113
hg1935113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222056
Supporting Variants
SamplesNA19239
Known GenesPTAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281924
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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