A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255444



Internal ID22256232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105984084..106019769hg38UCSC Ensembl
Outerchr12:106377862..106413547hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240456
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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