A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258424



Internal ID22231100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108372657..108486524hg38UCSC Ensembl
Outerchr1:108915279..109029146hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38113868
hg19113868
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191881
Supporting Variants
SamplesHG00733
Known GenesNBPF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258424
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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