A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278406



Internal ID22262878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212909537..212919441hg38UCSC Ensembl
Outerchr1:213082879..213092783hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg389905
hg199905
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193507
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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