A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857722



Internal ID22041365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877145..94877145hg38UCSC Ensembl
chr1:95342701..95342701hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244388
Supporting Variants
Samples
Known GenesSLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857722
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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