A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256010



Internal ID22200354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48435432..48453664hg38UCSC Ensembl
Outerchr12:48829215..48847447hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231148
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256010
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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