A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519517



Internal ID15100124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29081853..29086233hg38UCSC Ensembl
Innerchr22:29477841..29482221hg19UCSC Ensembl
Innerchr22:27807841..27812221hg18UCSC Ensembl
Innerchr22:27802395..27806775hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg384381
hg194381
hg184381
hg174381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687500, nssv661686, nssv679878, nssv656591, nssv685378, nssv691915
Samples
Known GenesKREMEN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519517
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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