A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227829



Internal ID22370199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38329317..38329389hg38UCSC Ensembl
chr13:38903454..38903526hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2229n152
Supporting Variantsnssv14400182
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)nsv3227829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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