A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281002



Internal ID22139443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1505446..1509112hg38UCSC Ensembl
Outerchr8:1453612..1457278hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218473
Supporting Variants
SamplesHG00513
Known GenesDLGAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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