A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609223



Internal ID21557528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169811765..169811765hg38UCSC Ensembl
chr1:169780906..169780906hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061805
SamplesNA24385
Known GenesC1orf112
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609223
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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