A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066179



Internal ID18808710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30328159..30370477hg38UCSC Ensembl
Innerchr22:30724148..30766466hg19UCSC Ensembl
Innerchr22:29054148..29096466hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3842319
hg1942319
hg1842319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600807
Samples
Known GenesCCDC157, KIAA1656, SF3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066179
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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