A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248385



Internal ID22376970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123901357..123913328hg38UCSC Ensembl
Outerchr12:124385904..124397875hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256107
SamplesHG00731
Known GenesDNAH10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248385
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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