A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853140



Internal ID22036783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094708..189094708hg38UCSC Ensembl
chr2:189959434..189959434hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253121
Supporting Variants
Samples
Known GenesCOL5A2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853140
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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