A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483548



Internal ID22541455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41849913..41851912hg38UCSC Ensembl
chr22:42245917..42247916hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868466
Supporting Variants
Samples
Known GenesSREBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483548
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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