A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400712



Internal ID22458582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8634166..8634280hg38UCSC Ensembl
chr18:8634164..8634278hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931430
Supporting Variants
Samples
Known GenesRAB12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400712
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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