A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244944



Internal ID22049554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146096671..146096671hg38UCSC Ensembl
chr5:145476234..145476234hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856404
Samples
Known GenesPLAC8L1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244944
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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