A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056696



Internal ID18799227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21978504..22219583hg38UCSC Ensembl
Innerchr22:22332876..22573975hg19UCSC Ensembl
Innerchr22:20662876..20903975hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38241080
hg19241100
hg18241100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3588880, nssv3588881
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056696
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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