A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063251



Internal ID19152470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23940817..23995743hg38UCSC Ensembl
Innerchr22:24283004..24337937hg19UCSC Ensembl
Innerchr22:22613004..22667937hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3854927
hg1954934
hg1854934
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733242, nssv3586563, nssv3586561, nssv3586557, nssv3586558, nssv3586560, nssv3586562, nssv3586556, nssv3586559, nssv3733241
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063251
Frequency
Sample Size11257
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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