A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17522686



Internal ID21847045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52031326..52031326hg38UCSC Ensembl
chr1:52496998..52496998hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6047613
Supporting Variants
Samples
Known GenesTXNDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17522686
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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