A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060243



Internal ID18802774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42503422..42585161hg38UCSC Ensembl
Innerchr22:42899428..42981167hg19UCSC Ensembl
Innerchr22:41229372..41311111hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3881740
hg1981740
hg1881740
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4578n100
Supporting Variantsnssv3592181
Samples
Known GenesPOLDIP3, RRP7A, 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)nsv1060243
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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