A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048911



Internal ID18791442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..22472558hg38UCSC Ensembl
Innerchr15:20488324..22821170hg19UCSC Ensembl
Innerchr15:18748338..20372534hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382189488
hg192332847
hg181624197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2179n100
Supporting Variantsnssv3536058
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, 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)nsv1048911
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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