A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256218



Internal ID22131716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62006074..62019303hg38UCSC Ensembl
Outerchr1:62471746..62484975hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813230
hg1913230
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201870
Supporting Variants
SamplesHG00513
Known GenesINADL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256218
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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