A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380687



Internal ID22438557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51399267..51399574hg38UCSC Ensembl
chr1:51864939..51865246hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872811
Supporting Variants
Samples
Known GenesEPS15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380687
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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