A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367716



Internal ID22593385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211336906..211336978hg38UCSC Ensembl
chr1:211510248..211510320hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874504
Supporting Variants
Samples
Known GenesTRAF5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367716
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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