A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240693



Internal ID22045303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14509851..14509851hg38UCSC Ensembl
chr12:14662785..14662785hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843614
Samples
Known GenesPLBD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240693
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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