A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255902



Internal ID22189338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40430265..40581086hg38UCSC Ensembl
Outerchr12:40824067..40974888hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387185
hg197185
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250354
Supporting Variants
SamplesHG00731
Known GenesMUC19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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