A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065405



Internal ID21459206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51449479..51451782hg38UCSC Ensembl
chr1:51915151..51917454hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382304
hg192304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5568907
Supporting Variants
SamplesHG02818
Known GenesEPS15
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065405
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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