A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065454



Internal ID21487522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54876671..54877709hg38UCSC Ensembl
chr1:55342344..55343382hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5576998
Supporting Variants
SamplesNA18534
Known GenesDHCR24
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065454
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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