A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195592



Internal ID22345747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50485850..50486132hg38UCSC Ensembl
chr19:50989107..50989389hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448031
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195592
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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