A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839393



Internal ID22023036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178741428..178741428hg38UCSC Ensembl
chr1:178710563..178710563hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245882
Supporting Variants
Samples
Known GenesRALGPS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839393
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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