A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282909



Internal ID22194163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:122675365..122742871hg38UCSC Ensembl
Outerchr9:125437644..125505150hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3867507
hg1967507
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218528
Supporting Variants
SamplesHG00731
Known GenesOR1L3, OR1L4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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