A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418705



Internal ID197867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12554029..12554080hg38UCSC Ensembl
chr17:12457346..12457397hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711500
Samples
Known GenesLINC00670
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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