A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844364



Internal ID22028007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229286443..229286443hg38UCSC Ensembl
chr1:229422190..229422190hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241130
Supporting Variants
Samples
Known GenesRAB4A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844364
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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