A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066347



Internal ID19155566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48767465..48787085hg38UCSC Ensembl
Innerchr22:49163277..49182897hg19UCSC Ensembl
Innerchr22:47549283..47568903hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3819621
hg1919621
hg1819621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4589n100
Supporting Variantsnssv3592292, nssv3592293, nssv3592295, nssv3592294
Samples
Known GenesMIR4535
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066347
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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