A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842249



Internal ID22025892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206521456..206521456hg38UCSC Ensembl
chr1:206694789..206694789hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258078
Supporting Variants
Samples
Known GenesRASSF5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842249
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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