A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270987



Internal ID22136602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68582898..68613553hg38UCSC Ensembl
Outerchr3:68632049..68662704hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3830656
hg1930656
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207153
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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