A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508968



Internal ID285641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103981013..103985729hg38UCSC Ensembl
chr11:103851741..103856457hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384717
hg194717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050522
Samples
Known GenesPDGFD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508968
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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