A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257979



Internal ID22200963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16319692..16331193hg38UCSC Ensembl
Outerchr1:16646187..16657688hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811502
hg1911502
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200588
Supporting Variants
SamplesHG00732
Known GenesFBXO42
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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