A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv473n206



Internal ID22755777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75474779..75525214hg38UCSC Ensembl
chr7:75104045..75154543hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3850436
hg1950499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5488329, nsv5484681
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv473n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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