A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043450



Internal ID18785981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19811063..21005431hg38UCSC Ensembl
Innerchr15:20016316..21210760hg19UCSC Ensembl
Innerchr15:18276329..19475419hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381194369
hg191194445
hg181199091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2174n100
Supporting Variantsnssv3534428
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, 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)nsv1043450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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