A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048125



Internal ID19137344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..22126578hg38UCSC Ensembl
Innerchr15:20262224..22414529hg19UCSC Ensembl
Innerchr15:18522238..19915893hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382069608
hg192152306
hg181393656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3538421
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, 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)nsv1048125
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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