A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256836



Internal ID22118108
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250354
Supporting Variants
SamplesHG00512
Known GenesMUC19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer