A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532312



Internal ID22401639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2143914..2143914hg38UCSC Ensembl
chr5:2144028..2144028hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398973
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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