A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693281



Internal ID116947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78754723..78754777hg38UCSC Ensembl
chr13:79328858..79328912hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501254
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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