A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208169



Internal ID22356453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17347200..17411776hg38UCSC Ensembl
Outerchr6:17347431..17412007hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3864577
hg1964577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276100, nssv14276101
SamplesNA19239, HG00732
Known GenesCAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208169
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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