A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396961



Internal ID22454831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27913717..27913877hg38UCSC Ensembl
chr22:28309705..28309865hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962605
Supporting Variants
Samples
Known GenesPITPNB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396961
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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