A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482930



Internal ID22540836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37086937..37089436hg38UCSC Ensembl
chr22:37482977..37485476hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878816
Supporting Variants
Samples
Known GenesTMPRSS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482930
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer