A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049546



Internal ID19138765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20210878..22075268hg38UCSC Ensembl
Innerchr15:20416131..22363219hg19UCSC Ensembl
Innerchr15:18676145..19864583hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381864391
hg191947089
hg181188439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2214n100
Supporting Variantsnssv3538221, nssv3716520
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1049546
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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