A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848500



Internal ID22032143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44682391..44682391hg38UCSC Ensembl
chr17:42759759..42759759hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250816
Supporting Variants
Samples
Known GenesCCDC43
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848500
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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