A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278860



Internal ID22136597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27729624..27827703hg38UCSC Ensembl
Outerchr8:27587141..27685220hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3898080
hg1998080
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226717
Supporting Variants
SamplesHG00513
Known GenesCCDC25, ESCO2, PBK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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