A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060205



Internal ID18802736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21107944..21490993hg38UCSC Ensembl
Innerchr22:21462233..21845282hg19UCSC Ensembl
Innerchr22:19792233..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38383050
hg19383050
hg18383050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4486n100
Supporting Variantsnssv3587394, nssv3587393, nssv3587396, nssv3587395
Samples
Known GenesBCRP2, FAM230B, HIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060205
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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