A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971253



Internal ID48180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144027712..144027763hg38UCSC Ensembl
chr6:144348849..144348900hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556939
Supporting Variants
Samples
Known GenesPLAGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00125


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