A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17855038



Internal ID22038681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6587459..6587459hg38UCSC Ensembl
chr4:6589186..6589186hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243720
Supporting Variants
Samples
Known GenesMAN2B2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17855038
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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