A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151628



Internal ID15880178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25244661..25514700hg38UCSC Ensembl
Innerchr22:25640628..25910667hg19UCSC Ensembl
Innerchr22:23970628..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38270040
hg19270040
hg18270040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588767
Supporting Variants
SamplesNINDS_169
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151628
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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