A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223446



Internal ID22367213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:56311320..56375690hg38UCSC Ensembl
Outerchr8:57223879..57288249hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3864371
hg1964371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280956
SamplesNA19238
Known GenesSDR16C5, SDR16C6P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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