A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255383



Internal ID22285905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70933732..70963372hg38UCSC Ensembl
Outerchr12:71327512..71357152hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3813420
hg1913420
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234258
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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