A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255857



Internal ID22131578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48531239..48542953hg38UCSC Ensembl
Outerchr12:48925022..48936736hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236499
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255857
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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