A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254308



Internal ID22058918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87269282..87269282hg38UCSC Ensembl
chr3:87318432..87318432hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854327
Samples
Known GenesPOU1F1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254308
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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