A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053147



Internal ID19142366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..22095238hg38UCSC Ensembl
Innerchr15:20262224..22383189hg19UCSC Ensembl
Innerchr15:18522238..19884553hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382038268
hg192120966
hg181362316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2192n100
Supporting Variantsnssv3715880
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)nsv1053147
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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