A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7614n152



Internal ID22823317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368453..172368686hg38UCSC Ensembl
chr5:171795457..171795690hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3284282, nsv3526804
SamplesHG00512, NA19239, HG00514
Known GenesSH3PXD2B
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)dgv7614n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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