A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392813



Internal ID22450683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32814324..32814324hg38UCSC Ensembl
chr22:33210310..33210310hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974550
Supporting Variants
Samples
Known GenesSYN3, TIMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392813
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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