A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276763



Internal ID22138965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64626189..64657456hg38UCSC Ensembl
Outerchr6:65336082..65367349hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3831268
hg1931268
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193004
Supporting Variants
SamplesHG00513
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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