A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067241



Internal ID18809772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16757380..17351252hg38UCSC Ensembl
Innerchr22:17238270..17832142hg19UCSC Ensembl
Innerchr22:15618270..16212142hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38593873
hg19593873
hg18593873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731797
Samples
Known GenesCECR1, CECR3, CECR5, CECR5-AS1, CECR6, CECR7, GAB4, HSFY1P1, IL17RA, LOC100996342, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067241
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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