A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849131



Internal ID22032774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40788150..40788150hg38UCSC Ensembl
chr22:41184154..41184154hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252151
Supporting Variants
Samples
Known GenesSLC25A17
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849131
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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