A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842248



Internal ID22025891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206475111..206475111hg38UCSC Ensembl
chr1:206648454..206648454hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258077
Supporting Variants
Samples
Known GenesIKBKE
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842248
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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