A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272042



Internal ID22120903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153208741..153261600hg38UCSC Ensembl
Outerchr1:153181217..153234076hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226384
Supporting Variants
SamplesHG00512
Known GenesLOR, PRR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272042
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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