A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271285



Internal ID22262317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189627564..189658154hg38UCSC Ensembl
Outerchr3:189345353..189375943hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3830591
hg1930591
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194945
Supporting Variants
SamplesNA19238
Known GenesTP63
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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