A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267489



Internal ID22274332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2276806..2338777hg38UCSC Ensembl
Outerchr1:2208245..2270216hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382966
hg192966
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213877
Supporting Variants
SamplesNA19239
Known GenesMORN1, SKI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267489
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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