A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256373



Internal ID22117974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162831254..162851559hg38UCSC Ensembl
Outerchr1:162801044..162821349hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3820306
hg1920306
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196594
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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