A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205234



Internal ID22353954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154583464..154583536hg38UCSC Ensembl
chr5:153963024..153963096hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7576n152
Supporting Variantsnssv14410921
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)nsv3205234
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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