A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600644



Internal ID18552239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25304928..25602474hg38UCSC Ensembl
Innerchr22:25700895..25998441hg19UCSC Ensembl
Innerchr22:24030895..24328441hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38297547
hg19297547
hg18297547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061233
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)nssv3600644
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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