A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512671



Internal ID289221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226163..5227555hg38UCSC Ensembl
chr11:5247393..5248785hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381393
hg191393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041693
Samples
Known GenesHBB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512671
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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