A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193003



Internal ID22343507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69474546..69482630hg38UCSC Ensembl
Outerchr6:70184438..70192522hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg388085
hg198085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276706
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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