A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280718



Internal ID22185699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135083511..135131569hg38UCSC Ensembl
Outerchr9:137975357..138023415hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239982
Supporting Variants
SamplesHG00731
Known GenesOLFM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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