A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060470



Internal ID18803001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42577696hg38UCSC Ensembl
Innerchr22:42897270..42973702hg19UCSC Ensembl
Innerchr22:41227214..41303646hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3876433
hg1976433
hg1876433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3737418
Samples
Known GenesRRP7A, RRP7B, SERHL, SERHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060470
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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