A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391641



Internal ID22449511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41849874..41850184hg38UCSC Ensembl
chr22:42245878..42246188hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956522
Supporting Variants
Samples
Known GenesSREBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391641
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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