A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254744



Internal ID22272377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248763682..248799250hg38UCSC Ensembl
Outerchr1:249058211..249093449hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3835569
hg1935239
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190610
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254744
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