A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040519



Internal ID19129738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20210878..22272411hg38UCSC Ensembl
Innerchr15:20416131..22560362hg19UCSC Ensembl
Innerchr15:18676145..20061726hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382061534
hg192144232
hg181385582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2192n100
Supporting Variantsnssv3538223
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1040519
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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