A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056886



Internal ID19146105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41160903..41172380hg38UCSC Ensembl
Innerchr22:41556907..41568384hg19UCSC Ensembl
Innerchr22:39886853..39898330hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3811478
hg1911478
hg1811478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4575n100
Supporting Variantsnssv3590809
Samples
Known GenesEP300
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056886
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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