A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282819



Internal ID22118861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111399769..111422065hg38UCSC Ensembl
Outerchr9:114162049..114184345hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3822297
hg1922297
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214301
Supporting Variants
SamplesHG00512
Known GenesKIAA0368
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282819
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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