A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981846



Internal ID21891189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937737..174938005hg38UCSC Ensembl
chr1:174906874..174907142hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522648
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981846
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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