A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7512n152



Internal ID22823215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124898366..124898490hg38UCSC Ensembl
chr5:124234059..124234183hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3286622, nsv3287979
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7512n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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