A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700908



Internal ID15090874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17678777..17681029hg38UCSC Ensembl
Innerchr22:18161543..18163795hg19UCSC Ensembl
Innerchr22:16541543..16543795hg18UCSC Ensembl
Innerchr22:16536097..16538349hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382253
hg192253
hg182253
hg172253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524899
Supporting Variants
Samples
Known GenesBCL2L13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700908
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