A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352995



Internal ID22578664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102300309..102300400hg38UCSC Ensembl
chr13:102952659..102952750hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937761
Supporting Variants
Samples
Known GenesFGF14, FGF14-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352995
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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