A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569271



Internal ID21517627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197531378..197534140hg38UCSC Ensembl
chr1:197500508..197503270hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061902
SamplesHG00731
Known GenesDENND1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569271
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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