A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588128



Internal ID18539723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265409..25608073hg38UCSC Ensembl
Innerchr22:25661376..26004040hg19UCSC Ensembl
Innerchr22:23991376..24334040hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38342665
hg19342665
hg18342665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060016
Supporting Variants
Samples
Known GenesADRBK2, CRYBB2P1, 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)nssv3588128
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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