A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599631



Internal ID21548266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55386022..55388055hg38UCSC Ensembl
chr17:53463383..53465416hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382034
hg192034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095062
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599631
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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