A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048362



Internal ID19137581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..21065709hg38UCSC Ensembl
Innerchr15:20216943..21271038hg19UCSC Ensembl
Innerchr15:18476957..19535697hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381054020
hg191054096
hg181058741
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3536986, nssv3536985
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048362
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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