A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275555



Internal ID22189725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:86360906..86440561hg38UCSC Ensembl
Outerchr6:87070624..87150279hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3879656
hg1979656
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202906
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275555
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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