A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203871



Internal ID22352815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29696928..29722311hg38UCSC Ensembl
Outerchr6:29664705..29690088hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3825384
hg1925384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276444, nssv14276443, nssv14276440, nssv14276442, nssv14276441
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203871
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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