A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192674



Internal ID22343221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18383149..18383204hg38UCSC Ensembl
chr21:19755466..19755521hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407939
SamplesNA19240
Known GenesTMPRSS15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192674
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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