A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850248



Internal ID22033891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70214144..70214144hg38UCSC Ensembl
chr2:70441276..70441276hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252580
Supporting Variants
Samples
Known GenesTIA1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850248
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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