A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067125



Internal ID18809656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21461565..21573601hg38UCSC Ensembl
Innerchr22:21815854..21927890hg19UCSC Ensembl
Innerchr22:20145854..20257890hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38112037
hg19112037
hg18112037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4491n100
Supporting Variantsnssv3731936
Samples
Known GenesPI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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