A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv478n206



Internal ID22755782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93911048..93915952hg38UCSC Ensembl
chr7:93540360..93545264hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg384905
hg194905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5487693, nsv5477199
Samples
Known GenesGNGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv478n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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