A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125381



Internal ID21451824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50596109..50602292hg38UCSC Ensembl
chr5:49891943..49898126hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg386184
hg196184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580397
Supporting Variants
SamplesHG01596
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125381
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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