A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200837



Internal ID22350229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:126628275..126712386hg38UCSC Ensembl
Outerchr6:126949421..127033531hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3884112
hg1984111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275630, nssv14275631
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200837
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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