A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14441819



Internal ID22238153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68833317..68833317hg38UCSC Ensembl
chr12:69227097..69227097hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548409
Supporting Variants
SamplesHG00733
Known GenesMDM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14441819
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