A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190732



Internal ID22341555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168558735..168663663hg38UCSC Ensembl
Outerchr6:168959415..169064343hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38104929
hg19104929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276667
SamplesNA19240
Known GenesSMOC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190732
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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