A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276429



Internal ID22153882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24809860..24833282hg38UCSC Ensembl
Outerchr6:24810088..24833510hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3823423
hg1923423
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205203
Supporting Variants
SamplesHG00514
Known GenesFAM65B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276429
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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