A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687438



Internal ID111104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45762445..45877388hg38UCSC Ensembl
chr13:46336580..46451523hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38114944
hg19114944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513442
Supporting Variants
Samples
Known GenesSIAH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687438
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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