A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277862



Internal ID22303045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1113057..1151045hg38UCSC Ensembl
Outerchr7:1152693..1190681hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223631
Supporting Variants
SamplesNA19240
Known GenesC7orf50
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277862
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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