A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550993



Internal ID22419911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17722270..17722270hg38UCSC Ensembl
chr19:17833079..17833079hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393189
SamplesNA19240
Known GenesMAP1S
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550993
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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