A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209651



Internal ID22357692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:23941494..23959823hg38UCSC Ensembl
Outerchr6:23941722..23960051hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3818330
hg1918330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276752, nssv14276753
SamplesHG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209651
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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