A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065490



Internal ID18808021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21594937hg38UCSC Ensembl
Innerchr22:21567219..21949226hg19UCSC Ensembl
Innerchr22:19897219..20279226hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38382008
hg19382008
hg18382008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4488n100
Supporting Variantsnssv3731884
Samples
Known GenesHIC2, 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)nsv1065490
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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