A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279104



Internal ID22199134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:113033096..113081301hg38UCSC Ensembl
Outerchr8:114045325..114093530hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3848206
hg1948206
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229869
Supporting Variants
SamplesHG00732
Known GenesCSMD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279104
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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