A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681444



Internal ID15418096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17216891..17219394hg38UCSC Ensembl
Innerchr22:17697781..17700284hg19UCSC Ensembl
Innerchr22:16077781..16080284hg18UCSC Ensembl
Innerchr22:16072335..16074838hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg382504
hg192504
hg182504
hg172504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520588
Supporting Variants
Samples
Known GenesCECR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681444
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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