A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856752



Internal ID22040395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48198984..48198984hg38UCSC Ensembl
chr4:48201001..48201001hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244056
Supporting Variants
Samples
Known GenesTEC
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856752
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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