A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229744



Internal ID22371493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128240915..128240967hg38UCSC Ensembl
chr8:129253161..129253213hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9341n152
Supporting Variantsnssv14437195
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)nsv3229744
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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