A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258554



Internal ID22216029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152206700..152228831hg38UCSC Ensembl
Outerchr1:152179176..152201307hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3822132
hg1922132
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205112
Supporting Variants
SamplesHG00733
Known GenesHRNR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258554
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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