A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256100



Internal ID22244719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1660656..1662961hg38UCSC Ensembl
Outerchr12:1769822..1772127hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232917
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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