A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057947



Internal ID18800478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16749141..17073986hg38UCSC Ensembl
Innerchr22:17230031..17554876hg19UCSC Ensembl
Innerchr22:15610031..15934876hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38324846
hg19324846
hg18324846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4463n100
Supporting Variantsnssv3589323
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)nsv1057947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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