A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132183



Internal ID21488293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125361231..125373563hg38UCSC Ensembl
chr5:124696924..124709256hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3812333
hg1912333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582378
Supporting Variants
SamplesNA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132183
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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