A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282897



Internal ID22187738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65514683..65545412hg38UCSC Ensembl
Outerchr9:44791433..44822106hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3830730
hg1930674
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216430
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282897
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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