A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208274



Internal ID22356544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:130178322..130187822hg38UCSC Ensembl
Outerchr6:130499467..130508967hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg389501
hg199501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275637
SamplesNA19238
Known GenesSAMD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208274
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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