A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995694



Internal ID20562734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104272731..104275247hg38UCSC Ensembl
chr12:104666509..104669025hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457164
Supporting Variants
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995694
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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