A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256389



Internal ID22261325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26124543..26145238hg38UCSC Ensembl
Outerchr1:26451034..26471729hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3820696
hg1920696
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209810
Supporting Variants
SamplesNA19238
Known GenesPDIK1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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