A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048348



Internal ID19137567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..22112595hg38UCSC Ensembl
Innerchr15:20395517..22400546hg19UCSC Ensembl
Innerchr15:18655531..19901910hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381922332
hg192005030
hg181246380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2214n100
Supporting Variantsnssv3716452, nssv3716453
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N4, 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)nsv1048348
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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