A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519724



Internal ID15100331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42627974..42631818hg38UCSC Ensembl
Innerchr22:43023980..43027824hg19UCSC Ensembl
Innerchr22:41353924..41357768hg18UCSC Ensembl
Innerchr22:41348478..41352322hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383845
hg193845
hg183845
hg173845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv260n21
Supporting Variantsnssv697013
Samples
Known GenesCYB5R3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519724
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