A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274892



Internal ID22216535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:94700621..94740062hg38UCSC Ensembl
Outerchr1:95166177..95205618hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227251
Supporting Variants
SamplesHG00733
Known GenesLINC01057
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274892
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