A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852544



Internal ID22036187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113464520..113464520hg38UCSC Ensembl
chr2:114222097..114222097hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252867
Supporting Variants
Samples
Known GenesCBWD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852544
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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