A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15175810



Internal ID21314606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218468..23218540hg38UCSC Ensembl
chr18:20798432..20798504hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948629
Supporting Variants
SamplesHG002
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15175810
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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