A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062747



Internal ID19151966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16761714..17081023hg38UCSC Ensembl
Innerchr22:17242604..17561913hg19UCSC Ensembl
Innerchr22:15622604..15941913hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38319310
hg19319310
hg18319310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4463n100
Supporting Variantsnssv3589325
Samples
Known GenesCECR7, GAB4, HSFY1P1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062747
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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