A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587373



Internal ID18538968
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 StatusS
Merged Variantsnsv1061238
Supporting Variants
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)nssv3587373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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