A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058124



Internal ID19147343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42496327..42547624hg38UCSC Ensembl
Innerchr22:42892333..42943630hg19UCSC Ensembl
Innerchr22:41222277..41273574hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3851298
hg1951298
hg1851298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3737359
Samples
Known GenesRRP7A, SERHL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058124
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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