A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055685



Internal ID18798216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23831207..23916307hg38UCSC Ensembl
Innerchr22:24173394..24258494hg19UCSC Ensembl
Innerchr22:22503394..22588494hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3885101
hg1985101
hg1885101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4531n100
Supporting Variantsnssv3586530
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055685
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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