A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4521n152



Internal ID22820224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24251373..24251473hg38UCSC Ensembl
chr2:24474242..24474342hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282589, nsv3280446
SamplesNA19240, HG00514
Known GenesITSN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4521n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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