A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267159



Internal ID22121452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28384243..28420381hg38UCSC Ensembl
Outerchr1:28710754..28746892hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221622
Supporting Variants
SamplesHG00512
Known GenesPHACTR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267159
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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