A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063374



Internal ID21433345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112112..220112431hg38UCSC Ensembl
chr1:220285454..220285773hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5571023
Supporting Variants
SamplesHG00731
Known GenesIARS2, RNU5F-1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063374
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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