A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281379



Internal ID22273020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70954736..70981259hg38UCSC Ensembl
Outerchr9:73569652..73596175hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242224
Supporting Variants
SamplesNA19239
Known GenesTRPM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281379
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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