A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432596



Internal ID211335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47637171..47637222hg38UCSC Ensembl
chr17:45714537..45714588hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713504
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer