A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281243



Internal ID22133317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93649035..93744169hg38UCSC Ensembl
Outerchr9:96411317..96506451hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3895135
hg1995135
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223725
Supporting Variants
SamplesHG00513
Known GenesPHF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281243
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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