A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521695



Internal ID15102302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22655867..23305822hg38UCSC Ensembl
Innerchr22:22998337..23648009hg19UCSC Ensembl
Innerchr22:21328337..21978009hg18UCSC Ensembl
Innerchr22:21322891..21972563hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38649956
hg19649673
hg18649673
hg17649673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698316
Samples
Known GenesBCR, FBXW4P1, GNAZ, IGLL5, MIR650, RAB36, RTDR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521695
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