A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843214



Internal ID22026857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42560794..42560794hg38UCSC Ensembl
chr12:42954596..42954596hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6240951
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843214
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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