A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7535n152



Internal ID22823238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686873..137688211hg38UCSC Ensembl
chr5:137022562..137023900hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284207, nsv3287495, nsv3210207
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKLHL3
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7535n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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