A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417273



Internal ID196473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21118762..21118813hg38UCSC Ensembl
chr17:21022075..21022126hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712144
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417273
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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