A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260002



Internal ID22119124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13050524..13080619hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382170
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227308
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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