A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280185



Internal ID22269544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139136551..139141040hg38UCSC Ensembl
Outerchr7:138821297..138825786hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383067
hg193067
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230012
Supporting Variants
SamplesNA19239
Known GenesTTC26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280185
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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