A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844504



Internal ID22028147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646395..215646395hg38UCSC Ensembl
chr1:215819737..215819737hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258158
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844504
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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