A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059017



Internal ID18801548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21486464hg38UCSC Ensembl
Innerchr22:21567219..21840753hg19UCSC Ensembl
Innerchr22:19897219..20170753hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38273535
hg19273535
hg18273535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3587412, nssv3587413
Samples
Known GenesHIC2, 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)nsv1059017
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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