A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276347



Internal ID22132483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198794321..198811715hg38UCSC Ensembl
Outerchr1:198763450..198780844hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3817395
hg1917395
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197732
Supporting Variants
SamplesHG00513
Known GenesMIR181A1HG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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