A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207408



Internal ID22355799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82612353..82626541hg38UCSC Ensembl
Outerchr6:83322070..83336258hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3814189
hg1914189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276125, nssv14276126
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207408
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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