A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049299



Internal ID18791830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20210878..22308242hg38UCSC Ensembl
Innerchr15:20416131..22681064hg19UCSC Ensembl
Innerchr15:18676145..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382097365
hg192264934
hg181556284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2179n100
Supporting Variantsnssv3538235, nssv3538237, nssv3538236, nssv3538238
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049299
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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