A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553554



Internal ID22422433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43970800..43970800hg38UCSC Ensembl
chr13:44544936..44544936hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416863
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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