A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062544



Internal ID18805075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21917856..21980398hg38UCSC Ensembl
Innerchr22:22272229..22334795hg19UCSC Ensembl
Innerchr22:20602229..20664795hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3862543
hg1962567
hg1862567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4492n100
Supporting Variantsnssv3588824
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062544
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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