A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482933



Internal ID22540839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37097574..37099628hg38UCSC Ensembl
chr22:37493614..37495668hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887233
Supporting Variants
Samples
Known GenesTMPRSS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482933
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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