A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065271



Internal ID19154490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41160944..41173605hg38UCSC Ensembl
Innerchr22:41556948..41569609hg19UCSC Ensembl
Innerchr22:39886894..39899555hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3812662
hg1912662
hg1812662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4575n100
Supporting Variantsnssv3590811
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)nsv1065271
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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