A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277310



Internal ID22230473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:7538506..7555063hg38UCSC Ensembl
Outerchr7:7578137..7594694hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3816558
hg1916558
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227913
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277310
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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