A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256804



Internal ID22271102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14582966..14600479hg38UCSC Ensembl
Outerchr12:14735900..14753413hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381205
hg191205
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250265
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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