A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359361



Internal ID22585030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104301376..104302527hg38UCSC Ensembl
chr12:104695154..104696305hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5938912
Supporting Variants
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359361
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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