A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385583



Internal ID22443453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53878224..53878392hg38UCSC Ensembl
chr1:54343897..54344065hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878291
Supporting Variants
Samples
Known GenesYIPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385583
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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