A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283601



Internal ID22271215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101475938..101500876hg38UCSC Ensembl
Outerchr9:104238220..104263158hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381878
hg191878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236957
Supporting Variants
SamplesNA19239
Known GenesTMEM246
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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