A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064641



Internal ID18807172
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 StatusM
Merged Variants
Supporting Variantsnssv3589324
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)nsv1064641
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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