A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240948



Internal ID22045558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42313414..42313414hg38UCSC Ensembl
chr12:42707216..42707216hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843211
Samples
Known GenesZCRB1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240948
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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