A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270386



Internal ID22254615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:30946727..30961102hg38UCSC Ensembl
Outerchr3:30988219..31002594hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg3814376
hg1914376
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207196
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270386
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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