A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208469



Internal ID22356705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:95247200..95264596hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3817397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276128, nssv14276127, nssv14276130, nssv14276129
SamplesNA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208469
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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