A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693717



Internal ID117383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112329441..112546000hg38UCSC Ensembl
chr13:112983755..113200314hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38216560
hg19216560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496336
Supporting Variants
Samples
Known GenesSPACA7, TUBGCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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