A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503975



Internal ID280786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226500..5250000hg38UCSC Ensembl
chr11:5247730..5271230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823501
hg1923501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040251
Samples
Known GenesHBB, HBBP1, HBD, HBG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503975
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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