A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276738



Internal ID22121671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158235801..158250389hg38UCSC Ensembl
Outerchr6:158656833..158671421hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3814589
hg1914589
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207171
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276738
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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