A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062992



Internal ID21464567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224136551..224139570hg38UCSC Ensembl
chr1:224324253..224327272hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg383020
hg193020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573109
Supporting Variants
SamplesHG03065
Known GenesFBXO28
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062992
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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