A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209532



Internal ID22357590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:121750864..121763129hg38UCSC Ensembl
Outerchr6:122072010..122084275hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3812266
hg1912266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275607, nssv14275608
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209532
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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