A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199604



Internal ID22349166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097758..37097823hg38UCSC Ensembl
chr22:37493798..37493863hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5727n152
Supporting Variantsnssv14422828
SamplesHG00514
Known GenesTMPRSS6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199604
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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