A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589324



Internal ID18540919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16757380..17233805hg38UCSC Ensembl
Innerchr22:17238270..17714695hg19UCSC Ensembl
Innerchr22:15618270..16094695hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38476426
hg19476426
hg18476426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064641
Supporting Variants
Samples
Known GenesCECR1, 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)nssv3589324
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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