A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243762



Internal ID22048372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13602882..13602882hg38UCSC Ensembl
chr4:13604506..13604506hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855076
Samples
Known GenesBOD1L1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243762
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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