A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255844



Internal ID22255412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40502508..40523264hg38UCSC Ensembl
Outerchr12:40896310..40917066hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233332
Supporting Variants
SamplesNA19238
Known GenesMUC19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255844
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