A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255478



Internal ID22269215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110167122..110184130hg38UCSC Ensembl
Outerchr12:110604927..110621935hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248668
Supporting Variants
SamplesNA19238
Known GenesIFT81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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