A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192961



Internal ID22343470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097758..37097822hg38UCSC Ensembl
chr22:37493798..37493862hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5727n152
Supporting Variantsnssv14451282
SamplesHG00733
Known GenesTMPRSS6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192961
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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