A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255497



Internal ID22263315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114003533..114034172hg38UCSC Ensembl
Outerchr12:114441338..114471977hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230950
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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