A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284493



Internal ID22382858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172570753..172570829hg38UCSC Ensembl
chr5:171997756..171997832hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7615n152
Supporting Variantsnssv14465522
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3284493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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