A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253142



Internal ID22130372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131960415..131991954hg38UCSC Ensembl
Outerchr9:134835802..134867341hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237035
Supporting Variants
SamplesHG00513
Known GenesMED27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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