A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226061



Internal ID22369000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28697381..28766123hg38UCSC Ensembl
Outerchr6:28665158..28733900hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279371, nssv14279370
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226061
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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