A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276115



Internal ID22275002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51318914..51346992hg38UCSC Ensembl
Outerchr6:51183712..51211790hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3828079
hg1928079
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194923
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276115
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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