A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230122



Internal ID22371749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39337831..39604557hg38UCSC Ensembl
Outerchr8:39195350..39462076hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38266727
hg19266727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9140n152
Supporting Variantsnssv14280924, nssv14280925
SamplesNA19238, HG00513
Known GenesADAM18, ADAM3A, ADAM5, LOC100130964
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230122
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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