A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4467n152



Internal ID22820170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9406003..9406150hg38UCSC Ensembl
chr2:9546132..9546279hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280992, nsv3282681
SamplesNA19240, HG00733
Known GenesITGB1BP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4467n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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