A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8750n152



Internal ID22824453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129789541..129789600hg38UCSC Ensembl
chr7:129429381..129429440hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3528512, nsv3286422
SamplesNA19238, NA19240
Known Genes
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)dgv8750n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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