A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281485



Internal ID22132379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120757578..120819506hg38UCSC Ensembl
Outerchr8:121769818..121831746hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3861929
hg1961929
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214013
Supporting Variants
SamplesHG00513
Known GenesSNTB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281485
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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