A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375985



Internal ID22601654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51067183..51076632hg38UCSC Ensembl
chr18:48593553..48603002hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389450
hg199450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936736
Supporting Variants
Samples
Known GenesSMAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375985
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