A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588070



Internal ID18886351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254209..25520419hg38UCSC Ensembl
Innerchr22:25650176..25916386hg19UCSC Ensembl
Innerchr22:23980176..24246386hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38266211
hg19266211
hg18266211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065261
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588070
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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