A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280936



Internal ID22199504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42312119..42344614hg38UCSC Ensembl
Outerchr8:42169637..42202132hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3832496
hg1932496
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219443
Supporting Variants
SamplesHG00732
Known GenesIKBKB, POLB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280936
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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