A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610430



Internal ID21558735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219901004..219901004hg38UCSC Ensembl
chr1:220074346..220074346hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062735
SamplesHG00731
Known GenesRNU5F-1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610430
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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