A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255843



Internal ID22292565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40137495..40151068hg38UCSC Ensembl
Outerchr12:40531297..40544870hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382228
hg192228
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233250
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255843
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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