A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062606



Internal ID18805137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38729069..38782696hg38UCSC Ensembl
Innerchr22:39125074..39178701hg19UCSC Ensembl
Innerchr22:37455020..37508647hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3853628
hg1953628
hg1853628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4566n100
Supporting Variantsnssv3600881
Samples
Known GenesDNAL4, GTPBP1, SUN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062606
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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