A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588808



Internal ID21537372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26554059..26554470hg38UCSC Ensembl
chr18:24134023..24134434hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100819
SamplesNA18939
Known GenesKCTD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588808
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