A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060646



Internal ID21467613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152351538..152351762hg38UCSC Ensembl
chr1:152324014..152324238hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572503
Supporting Variants
SamplesHG03065
Known GenesFLG2, FLG-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060646
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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