A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227415



Internal ID22369919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93094003..93117349hg38UCSC Ensembl
Outerchr12:93487779..93511125hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3823347
hg1923347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255823
SamplesHG00513
Known GenesLOC643339
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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