A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550520



Internal ID22419441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27061915..27061915hg38UCSC Ensembl
chr13:27636052..27636052hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg382310
hg192310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444126, nssv14416222
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550520
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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