A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549988



Internal ID22418923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51752367..51752367hg38UCSC Ensembl
chr15:52044564..52044564hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3832811
hg1932811
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443391
SamplesHG00733
Known GenesTMOD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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