A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061633



Internal ID18804164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21490766hg38UCSC Ensembl
Innerchr22:21567219..21845055hg19UCSC Ensembl
Innerchr22:19897219..20175055hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38277837
hg19277837
hg18277837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3587414, nssv3587415
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)nsv1061633
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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