A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461194



Internal ID22519077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50015472..50016471hg38UCSC Ensembl
chr13:50589608..50590607hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850295
Supporting Variants
Samples
Known GenesDLEU2, KCNRG, TRIM13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461194
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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