A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544820



Internal ID318926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18072480..18072530hg38UCSC Ensembl
chr17:17975794..17975844hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711885
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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