A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263155



Internal ID22257297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18435437..18445111hg38UCSC Ensembl
Outerchr19:18546247..18555921hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244947
Supporting Variants
SamplesNA19238
Known GenesELL, ISYNA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263155
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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