A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061238



Internal ID18803769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20184066..20271863hg38UCSC Ensembl
Innerchr22:20171589..20259386hg19UCSC Ensembl
Innerchr22:18551589..18639386hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3887798
hg1987798
hg1887798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4482n100
Supporting Variantsnssv3587373
Samples
Known GenesLINC00896, LOC284865, MIR1286, RTN4R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061238
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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