A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256010



Internal ID22060620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16506208..16506208hg38UCSC Ensembl
chr5:16506317..16506317hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858355
Samples
Known GenesFAM134B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256010
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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