A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256265



Internal ID22207494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62169465..62209996hg38UCSC Ensembl
Outerchr1:62635137..62675668hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3840532
hg1940532
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196288
Supporting Variants
SamplesHG00732
Known GenesL1TD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256265
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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