A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276059



Internal ID22198568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168267014..168336354hg38UCSC Ensembl
Outerchr6:168667694..168737034hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3869341
hg1969341
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198999
Supporting Variants
SamplesHG00732
Known GenesDACT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276059
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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