A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981765



Internal ID21891108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174578719..174621426hg38UCSC Ensembl
chr1:174547857..174590564hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3842708
hg1942708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522023
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981765
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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