A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194923



Internal ID22345177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51318914..51346992hg38UCSC Ensembl
Outerchr6:51183712..51211790hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3828079
hg1928079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276115
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194923
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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