A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281925



Internal ID22272742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74078603..74160123hg38UCSC Ensembl
Outerchr9:76693519..76775039hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3881521
hg1981521
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223594
Supporting Variants
SamplesNA19239
Known GenesMIR6130
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281925
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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