A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277376



Internal ID22141385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114768139..114785640hg38UCSC Ensembl
Outerchr7:114408194..114425695hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3817502
hg1917502
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222784
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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