A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244100



Internal ID22048710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55987803..55987803hg38UCSC Ensembl
chr4:56853969..56853969hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856790
Samples
Known GenesCEP135
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244100
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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