A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065383



Internal ID18807914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21107944..21575360hg38UCSC Ensembl
Innerchr22:21462233..21929649hg19UCSC Ensembl
Innerchr22:19792233..20259649hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38467417
hg19467417
hg18467417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4486n100
Supporting Variantsnssv3587397
Samples
Known GenesBCRP2, FAM230B, HIC2, PI4KAP2, POM121L8P, 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)nsv1065383
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer