A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278836



Internal ID22121913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:280052..298786hg38UCSC Ensembl
Outerchr7:320018..338752hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3818735
hg1918735
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222072
Supporting Variants
SamplesHG00512
Known GenesLOC100288524
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278836
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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