A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422713



Internal ID201753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21215529..21215580hg38UCSC Ensembl
chr17:21118842..21118893hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712152
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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