A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280924



Internal ID22136679
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230122
Supporting Variants
SamplesHG00513
Known GenesADAM18, ADAM3A, ADAM5, LOC100130964
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280924
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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