A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705630



Internal ID129296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30000..276000hg38UCSC Ensembl
chr16:80000..326000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38246001
hg19246001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522593
Supporting Variants
Samples
Known GenesHBA1, HBA2, HBM, HBQ1, HBZ, ITFG3, LUC7L, MPG, NPRL3, POLR3K, RGS11, RHBDF1, SNRNP25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000157


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