A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419490



Internal ID198621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62362776..62362827hg38UCSC Ensembl
chr17:60440137..60440188hg19UCSC Ensembl
Cytoband17q23.2
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 Variantsnssv17725008
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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