A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254475



Internal ID22272550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110795523..110849550hg38UCSC Ensembl
Outerchr1:111338145..111392172hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3854028
hg1954028
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191818
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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