A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040933



Internal ID19130152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19998696..22295446hg38UCSC Ensembl
Innerchr15:20203949..22583397hg19UCSC Ensembl
Innerchr15:18463963..20084761hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382296751
hg192379449
hg181620799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3534547
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)nsv1040933
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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