A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273874



Internal ID22139319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:90351052..90390283hg38UCSC Ensembl
Outerchr1:90816610..90855840hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213186
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273874
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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