A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421799



Internal ID22479669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44259250..44259250hg38UCSC Ensembl
chr3:44300742..44300742hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966584
Supporting Variants
Samples
Known GenesTOPAZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421799
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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