A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262476



Internal ID22119930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:73121530..73148554hg38UCSC Ensembl
Outerchr1:73587213..73614237hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388006
hg198006
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221232
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer