A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842814



Internal ID22026457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203659250..203659250hg38UCSC Ensembl
chr1:203628378..203628378hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258054
Supporting Variants
Samples
Known GenesATP2B4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842814
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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