A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255055



Internal ID22271160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192884480..192895491hg38UCSC Ensembl
Outerchr1:192853610..192864621hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3811012
hg1911012
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191435
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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