A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276678



Internal ID22198700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106966368..106992281hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3825914
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190437
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276678
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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